GENETICS

Author: FIDALGO MERINO MANUEL ÁNGEL.
Year: 2003.
University: PABLO DE OLAVIDE [More theses of this university] [www.upo.es].
Place of defense: CIENCIAS EXPERIMENTALES.
Place of preparation: UNIVERSIDAD DE MÁLAGA, CONVALIDADA.

Summary: In the production of fine wine, certain species of yeast Saccharomyces cerevisiae (yeast calls for flower) are responsible for carrying out a biological parenting. In it, and through its metabolism transform the young wine (from the fermentation of wine) in fine wine. The yeasts flower producers of fine wine are able to grow in an environment with alcohol as the sole source of carbono.Para therefore develop a film cell surface (called a flower or veil) in boots oak containing young wine. This film is very important to establish the organoleptic characteristics of the wine during the breeding biology. At the same time, this structure avoids damaging oxidation of the wine during the breeding biology. During the summer period, the increase in temperature leads to a loss of stability of the flor.Esto results in a fall of the veil at the bottom of the boot, and it implies a delay in the aging wine, potenciándose, además.La oxidaciónn the same . This work, we have identified the gene implicated in the development of the flower of wine by these yeasts, and we proceeded with its molecular characterization. Knowing the molecular mechanisms that lead to the development of this structure will address improvement plans directed on these yeast gene to increase the stability of the flower produced.

Author: CAMACHO MARTINEZ MANUEL VICENTE.
Year: 2003.
University: COMPLUTENSE DE MADRID [More theses of this university] [www.ucm.es].
Place of defense: FACULTAD DE CIENCIAS BIOLÓGICAS.
Place of preparation: FACULTAD DE CIENCIAS BIOLÓGICAS.

Summary: The rye (Secale cereal L.) is a comprehensive cereal crop in temperate regions used for human and animal consumption. Because of its ability to grow in extreme situations has been subjected to screening processes to improve their productivity. In the same way has also been used to transfer genes to wheat to increase their resistance to extreme conditions. The use of molecular techniques facilitates the identification and transfer of these genes between species. Aluminum is the most abundant metal in the earth's crust. One of the biggest problems faced by farmland is due to aluminum toxicity or gradual acidification of the same due to the action of man. The cereal rye is the most tolerant to aluminum toxicity, and in principle a good source for locating genes tolerance aluminum and see their possible transfer to other species such as wheat. So far three have been described to aluminum tolerance genes in rye. Within the various molecular techniques available, it was used for amplification and ISSR RAPD lines in addition trigo-centeno to obtain the largest possible number of molecular markers distributed by the seven chromosomes of rye. By both techniques has obtained the location of 104 molecular markers. In the same way microsatellites were searched in a database of ESTs that were expressed in rye under stress conditions to aluminum. Thus will obtain molecular markers at the same time try to see if there was any relationship between these sequences and the genes for tolerance to aluminum described in rye. Have been found and secured its location crómosica of 10 microsatellites new. This means knowing the location of chromosome sequence that are expressed under conditions of stress in the aluminum rye. In an attempt to mapping the largest possible number of potential molecular markers, were studied in several F2 segregation and ISSR mainly microsatellites. These F2 came from a cross between tolerant cultivar "Ailés" and the line consanguínea "Riodevia", which is sensitive to aluminum. It was subsequently conducted an analysis of linkage and linkage groups were obtained for the 7 chromosomes of rye. In these populations. They also discussed the segregation of different marker genes associated with tolerance to aluminum available. We have obtained the sequence of different pieces of rye with the aim of designing primers specific. In the same way they have sought in databases potential counterparts of these sequences with other previously described.

Author: VILAS SALLERES CARLOS.
Year: 2004.
University: SANTIAGO DE COMPOSTELA [More theses of this university] [www.usc.es].
Place of defense: FACULTAD DE BIOLOXÍA.
Place of preparation: INSITUTO DE ACUICULTURA.

Summary: To study the relative importance of inbreeding depression and the loss of adaptive diversity in determining the risk of extinction of pequeflas stocks, we carried out an experiment in which we crossed and auto-fertilizamos plants founding of a single large population of Silene littorea. The seeds produced by the use of these plants to produce a series of seedlings reintrodujimos in 18 new locations within the range of the species. Stocks were reintroduced three classes: inbred and genetically homogeneous, each consisting of seed source autogámico a single plant; inbred and mixed, each consisting of a mixture of seeds home autogámico of all plants founding, and exogámicas and mixed, each consisting of a mixture of seeds obtained crossings exogámicos among the founders. Inbred homogeneous populations compared with inbred mixed to measure the effect of genetic diversity among individuals and inbred mixed with exogámicas to measure the effect of inbreeding. Successful reintroduction was severely limited by inbreeding while was not affected by the genetic diversity. This observation, together with the family interaction by local non-significant character individual plant, suggested that the fixing of all genes responsible for the deleterious inbreeding depression are a more serious threat in the short term for the survival of populations in loss genes involved in genotype-environment interactions and hence related to the adaptive diversity. Preventing such a setting might be the most important consideration to arise in the management and conservation ethic gene populations Silene littorea. Utilizing this diseflo experimental study the impact of the genetic mechanism of sex determination in the survival of small populations of Silene littorea. The loss of genetic variation in populations may have other effects besides the inbreeding depression and the loss of potential adaptive. In the case of many species of plants ginodioicas that have systems citonucleares of sex determination restorers nuclear dominant male role, a limited genetic variability and high inbreeding populations increase in the frequency of female homocigotas recessive plants with female flowers. This could have the opposite effect to the risk of extinction, and that greater frequency of female flowers in a population could result in a limitation of pollen and a limited success in fertilization, but also in a small inbreeding depression in the next generation, since the female flowers are unable auto-fertilizarse. We experimentally investigate the balance of these two effects pequeflas populations Silene littorea reintroduced in the area, noting that inbreeding increased the proportion of female flowers and plants females in the population. This result is consistent with a system citonuclear of sex determination restorers nuclear dominant male role. While we do not find any positive effect of an increase in population growth in the aflo following were detected negative effects that were probably related to the limitation of pollen. Stocks produced more female flowers in the first aflo study had a lower population growth in the second aflo. Our results suggest that restaurateurs nuclear production pollen dominant accelerate the extinction of pequeflas populations Silene littorea and that the mechanisms of sex determination may be an important factor to consider in the conservation of numerous species of plants.

Author: MARSELLACH CASTELLVI FRANCESC XAVIER.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAD DE BIOLOGÍA.
Place of preparation: INSTITUD DE BIOLOGÍA MOLECULAR DE BARCELONA.

Author: CARIM TODD LAURA.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAD DE BIOLOGIA.
Place of preparation: FACULTAD DE BIOLOGIA ,UB.

Author: ROSANAS URGELL ANNA.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAD DE BIOLOGIA.
Place of preparation: DEPAR.GENÉTICA FAC,BIOLOGÍA UNI,BARCELONA.

Summary: The genes that make up the clusta for hox are factors trancripción, that the origin of metazoos was crificaron by amplicaciones an ancestral gene common homodaminio.En the origin of vertebrates and the cluster duplications doubled forming until 4 clusters. The hypothesis inical work was the existence of one to three genes paralogaos to Paxl unidentified in the week humano.La later sequenciación this genome, did not confirm the existence of genes Paxl recognizable in the genoma.Seguidamente will analyze the expression of genes for Hox in different tissues anetos of retón and confirm their expression in different tissues adults, not described anteriormente.También was confirmed expression in the cells of the pancreas x adult mouse, using techniques hibridción spot and immunolocalización.Además propose a regulatory process postransplinel / pretraduccional for Polx, by withholding its MRNA to nucleus. Subsequently relazaron contransfecciones of genes ParaHox cloned into expression vector is, together with the promoter of insulin with the reporter gene of lucijerosa in cell cultures XTCI and BTCG, thus we conclude that genes ParaHox, different concentrations of glucose, have on the promoter activity of the insulin, so much more evident in the case of CDX4

Author: DALFÓ SIMÓ DIANA.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAD DE BIOLOGÍA.
Place of preparation: DEPARTAMENTO DE GENÉTICA , FACULTAD DE BIOLOGÍA.

Summary: SUMMARY; An excess or deficiency of retinoic acid (RA) causes severe malformations in the embryonic development of cordados, indicandoque function of this metabólitodurante embryogenesis is commune throughout the filum.Sin The fact that a metabólito particular have a same function in different organisms, does not necessarily imply that it is metabolized in the same way in all of them. To study the route of synthesis of SR in Cephalochordata decided determine the content of retinoids in anfioxo, in both adults and eggs, and to compare the effects of treatments caused Retinol and SR during embryonic development. The results showed the presence of retinol, retinal and ARen adult animals around concentrations equivalent to those described in vertebrates. Furthermore, analysis of the contents retinoidesen gonads in diferentesestadios of maduraciónsugería a progresivatransformacióndel retinola retinal, which would remain as the only retinoid stored in the egg. Moreover, treatments retinoly ARprovocaron malformations similar embryos anfioxo.Todos these results indicated that anfioxos would have the ability to oxidize retinol to producirARy therefore necessary enzymatic activities. The regulation of the levels fisiológicosdel ARse achieved by enzymes responsible for its production, from retinol, and their eliminacióna formasbiológicamenteinactivas.En process of production, retinoles oxidadodos vecestransformándoseprimeroa retinal, and then AR.En vertebrates, but have been descritomúltiplesenzimasque belong two familiasdiferentes-las MDR-ADHy the SDRRDH- that puedencatalizarla oxidacióndel retinola retinalin vitro is not clarocuál is responsablein vivo.Por the contrary, there is a co "nsenso on the identity of the enzymes that oxidized to the retinal AR, the RALDH.A Although in vertebrates have been described at least three RALDHdiferentes with retinal dehydrogenase activity, it is considered that the RALDH2es the primary responsibility for the synthesis of SR during embryonic development. order to analyze the metabolism of retinoids on the base the cordados and inferirsu developments in the fílum, identificamoslos ortólogos for some of the genes in vertebrates in the cefalocordado anfioxo. Therefore, using PCR with degenerate oligonucleotides and the screening of gene banks were able to isolate putativas RDHsen two species of anfioxo, B. lanceolatum and B. fIoridae.Además, partirde search in a database d'ESTs of anfioxo identify the sequence of a probable RALDHque, given its high similitudcon the secuenciasde losvertebradosy its pattern expresiónduranteeldesarrollo, was a buencandidatoparala síntesisdelARdurantela determination shaft anterior-posteriordel animal. Despite that previous studies had identificadodos putativas RDHs in I'anfioxoB. fIoridae, BfRDH1y BfRDH2, unaware of its subcellular localization and its biochemical properties, ie if they were more efficient rusting retinol or reducing the retinal, and what was his preference cofactor. We have made progress in this characterization and we proved that the two enzymes are located in the endoplasmic retículo, thanks mainly to its N-terminal end, which would allow the ancoraje of the protein to the membrane and determine its overall topology. Por otra , the characterization bioquímicade the two enzymes revealed that catalyze the reduction of retinal to retinolusando the NAD (H) as cofactor, a biochemistry surprising for this family of enzymes. If this activity is a reflection of the situation ancestral family RDH , the current forms of vertebrates have evolved from an activity retinal reductasa-NAD (H) dependent.

Author: NEGRE DE BOFARULL BÁRBARA.
Year: 2004.
University: AUTÓNOMA DE BARCELONA [More theses of this university] [www.uab.es].
Place of defense: FACULTAT DE CIÈNCIES.
Place of preparation: ESCUELA DE POSTGRADO.

Summary: Genes homeóticos (Hox) encode transcription factors involved in the specification of the identity segmental along the axis previous post in the embryo of metazoos. These genes are usually grouped and organized in the order in which they are expressed along the anteroposterior axis of the body. The conservation of this genomic organization along the phylogeny has suggested the existence of functional constraints acting on it, but the structure of the complex in Caenorhabditis elegans and the three breaks described in the genus Drosophila call into question that this organization is really necessary for its proper functioning in some lineages. In this paper we have studied the implications genomic and functional of the two reorganizations complex Hox genes in Drosophila buzzatti species belonging to the group packed. In the first part of the work has been cloned and sequenced regions of the gene coding labial (lab) D.buzzatti and D.virilis. We compared the sequences of these two species and the D.melanogaster to check if the change of position of the gene lab occurred in the lineage of B.buzzatti had been any change in the structure of the gene or in the evolution of its sequence. The results show a rate of change over heterogeneous gene but homogeneous along the phylogeny. The exchange rate nucleotídico of lab has remained constant despite the change in position. In the second part of the work has been sequenced two regions of the genome D.buzzatti. One contains genes lab and abdominal A (abdA) and the other includes the gene proboscipedia (pb), and has compared his organization géncia with D.melanogaster and D.pseudoobscura to locate precisely the point of breakage. We also have compared the sequences of these non-coding regions, there has been a high presence of conserved blocks in the introns and adjacent regions of Hox genes. The comparison of the conserved blocks with known regulatory regions of Hox genes (lab, pb and abdA) D.melanogaster shows that the position and orientation of regulatory regions are conserved among the three species, with minor exceptions. Finally, we analyzed the pattern of expression of Hox genes in the three embryos and disks imaginales of D.buzzatii, D.repleta, D.virilis and D.melanogaster, four species with different organizations of the Hox genes. The two studied breaks occurred through investments paracéntricas, with the points of rupture respecting the regulatory regions of both genes. So the regulatory regions and patterns of expression of Hox genes adjacent have been preserved in spite of the organizations. In Drosophila the complex seems to have a structure consisting of modules (including genes and regulatory regions) independent grouping which is not required for its proper functioning. The organization of these genes is modular and clustering appears to be the result of the phylogenetic inertia rather than the functional necessity. The discovery of more reorganizations in other lineages and the importance of temporal colinearity in some agencies suggest that the cause of the conservation of functional consequence of the loss of colinearity temporary agencies with rapid development by changing embryogenesis.

Author: ZAMORA PLANA LURDES.
Year: 2004.
University: AUTÓNOMA DE BARCELONA [More theses of this university] [www.uab.es].
Place of defense: FACULTAT DE CIÉNCIES.
Place of preparation: ESCUELA DE POSTGRADO.

Author: MANSILLA BARRADO SYLVIA.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAD DE BIOLOGÍA.
Place of preparation: INSTITUTO DE BIOLOGÍA MOLECULAR DE BARCELONA (IBMB-CSIC).

Summary: Our group has been involved in the analysis of the mechanisms of action dela Bisantraciclina WP631. We compared the effects of WP631 with two of the Daunorubicina in line Jurkat T (T lymphocyte leukemia), and with the doxorubicin in lines MDA-MB-231 and MCF-7/VP (mammary carcinoma lines ). We have shown that WP631 is an antiproliferative much more effective than Daunorubicina and doxorubicin in the three lines tested tumor, and which inhibits cell growth at extremely low doses (range nanomolar). In this paper we have examined the mechanisms of cell death through which the Antraciclinas exert its antiproliferative effect. We have shown that these molecules can induce apoptosis mechanisms other than dependent p53: senescence and mitotic catastrophe, processes that do not necessarily depend on the functionality of the gene p53. The antiproliferative effects of Daunorubicina on leukemic cells Jurkat T dependent on the dose used: apoptosis at high doses (IC75) and senescence low dose / moderate (IC50). The WP631 not induce apoptosis in line Jurkat T, but mitotic catastrophe. Our results show that the mitotic catastrophe occurs when tumor cells resistant to apoptosis are treated with genotoxic, and can be a process as independent of both dependent activation of caspase-2 and caspasa-3. Using Macroarrays, we have shown that there is a clear correlation between changes in the profiles of gene transcription and cellular effects observed in cells Jurkat T treated with Daunorubicina or WP631. We confirm some of the changes observed by semi-quantitative RT-PCR and Western blot. We note that the WP631 reduces the expression of p53 in cells Jurkat T, a result which explains that mitotic catastrophe the Bisantraciclina induced apoptosis and not in this cell line. We have confirmed that the WP631 competes with transcription factors Sp1 and Sp3, and inhibits transcription dependent Sp1 in vivo (cell cultures), to the same concentrations capable of inducing mitotic catastrophe in the cells Jurkat T We have shown that the dose IC75 for the WP631 reduces the transcription of the gene mrp-1 in the cell line MCF-7/VP, resulting in the reduction of the activity of the protein MRP-1. This effect could be mediated also by interference d the WP631 with the transcription factor SP1, which regulates gene expression positively Because the overexpression of the gene mrp-1 is associated with resistance to multiple tumor, WP631 is a with interest molecular clinical potential in the treatment of tumors with MDR phenotype (Multidrug Resistance). Ultimately, in this paper we have demonstrated the potential benefits of WP631 on Daunorubicina and doxorubicin. These advantages lie in their binding to DNA properties and its ability to displace the transcription factor SP1. The analysis of the frequencies of the potential targets of union for WP631 in different human promoters, tells us that it is feasible to rationally design molecules of low molecular weight constant union with the DNA of the same order of magnitude as that of transcription factors, drugs can get increasingly effective. Moreover, we believe that the in-depth analysis of the molecular mechanisms that regulate the process of senescence and mitotic catastrophe must be a very useful tool to increase efficiency in certain tumor treatments, and that the gene p53 is frequently inactivated in non-hematologic tumors.

Author: VENDRELL SOLER ELISENDA.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAT DE BIOLOGÍA.
Place of preparation: FACULTAT BIOLOGÍA, UNIVERSITAT DE BARCELONA.

Summary: In this thesis we studied 50 cases of sporadic colorectal cancer in stages of Dukes B and C, through two global approaches: CGH (Comparative Genomic Hybridization) and the analysis by microarrays. group chromosomal instability remaining (34%). Moreover, by analyzing major components of the 128 genes that have an increased variability we define new variables called metagenes. In the speech.

Author: MARSAL TERÉS MARIA.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: UNIVERSITAT DE BARCELONA.
Place of preparation: DEPARTAMENTO DE GENÉTICA, FACULTAD DE BIOLOGÍA, UB.

Summary: The communication between cells is essential to integrate the orders necessary for a body that can develop successfully from the stadium in a cell until he maintenance of the state adult. The number of signaling pathways that cells need to communicate is relatively low and why those tracks are reused several times during the development of organisms. The agency model used in this study is the plenary freshwater Girardia tigrina. The planarias are particularly attractive because of its large morphological plasticity and great ability to regenerate lost parts of the body. This thesis attempts to elucidate the role in the regeneration of a way of signaling proteins in particular, the way Wnt, which governs multiple functions during normal development of the agencies. Specifically describes the isolation of a counterpart of the subfamily Wnt-5 and the negative regulator of the way, the GSK-3. It also analyzes the pattern of expression of these genes, hallándose a peak in the central nervous system. In addition, detailed experiments RNA interference made by different methodologies to cause loss of function phenotypes. They were successful approaches for gene GSK-3, with results corroborated with drugs for such kinase inhibitors. The phenotypes of loss of function deGSK-3 indicates an essential role for this gene in the regeneration of the party over and above the agency in determining cephalic.

Author: TUSON SEGARRA MIQUEL.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAT DE BIOLOGÍA.
Place of preparation: DEPT. GENÉTICA - FAC. BIOLOGÍA - UNIV. BARCELONA.

Summary: The retinitis pigmentosa hereditary retinal degeneration is the most prevalent and one of the leading causes of blindness in humans. From a clinical point of view manifests itself as night blindness, progressing to the reduction of the visual field and in advanced stages leading to complete blindness. It is characterized by the death of apoptotic cells fotoreceptoras of the retina as a result of altering one of the 32 genes that so far have been identified as causes of this disease. The main objective of this work doctoral thesis has been the search for a new gene for autosomal recessive retinitis pigmentosa in the locus RP26. This locus was previously defined by our group in the long arm of chromosome 2, through an analysis of linkage. In this paper, thesis, presents the functional characterization of a new gene locus RP26, the gene ORMDL1, identified as presumptive nominee, and a description of the gene family to which it belongs: a new family of genes encoding proteins transmembrane the endoplasmic reticulum, highly conserved and present exclusively in ecuariotas. Through functional analysis performed for the generation of knockout strains of genes ORM1 and ORM2 yeast, it is proposed involvement of these proteins in the response of the endoplasmic reticulum protein folded wrong. In the second part of the job, presents the search results of the gene responsible for RP locus RP26. Thanks to an approach that included precise limits locus analysis of candidate genes and an extensive mapaje of homocigosidad, conducted over a range of 12 Mb consecration, we define a candidate region containing 9 gene described . These 9 genes were discarded by sequencing as responsible for the disease. The search in silico new genes led to the identification of a new gene, which we call CERKL (ceramide kinase-llike) that encodes a protein similar to ceramide kinase. The sequencing of the coding region of CERKL in the family RP26, enabled us to identify a point mutation (R257X) in exon 5 gene, homocigosis in individuals affections. This mutation produces premature truncation of the protein CERKL, amid domain quinásico. The gene CERKL expressed in the ganglion cell layer and the photoreceptors of the retina. The discovery of CERKL as gene RP26 related apoptosis first feature of retinal degeneration with altered metabolism of esfingolípidos, which has been implicated in various processes of cell death and survival.

Author: FERNÁNDEZ SÁNCHEZ M. ELENA.
Year: 2004.
University: COMPLUTENSE DE MADRID [More theses of this university] [www.ucm.es].
Place of defense: FACULTAD DE CIENCIAS BIOLÓGICAS.
Place of preparation: FACULTAD DE CIENCIAS BIOLÓGICAS.

Summary: The Epilepsy MioclóDÍca Progressive type II (EMP2) or Lafora disease is a disease autosómíca recessive characterized by the presence of some systemic inclusion body intracellular PAS positive, similar to glycogen or amilopeptina, called Lafora bodies. The clinical picture is defined by attacks mioclónicos, epilepsy and a progressive neurological deterioration. Once detected the first symptoms, most patients die within a period of less than ten years. So far. Have described two genes involved in disease, EPM2A coding for laforina, a protein phosphatase dual and EM2BP or NHLRC1 coding for malina, a possible E3 ubicuitina ligasa. But still desconóce the role that can have both proteins in the cell metabolism. The presence of the Corps Lafora in -pacientes has always suspect that this is a pathology related glucogenosi. To try desentraftar the physiological mechanisms involved in this disease, we began. A search of regulatory proteins and / or substrate interacting with laforina. This study addressed expe ~ enta1mente through the system twice lúbrido in yeast in which clashed protein laforina a genoteca human cDNA of skeletal muscle and brain. As a result of these trials have identified seven proteins that interact in vitro with laforina. These proteins are: the proper laforiDa, malina, RS, RanBPM, RFP, PIASy and Palsl. The results of this thesis, thus establishing for the first time a direct link of laforina with glycogen metabolism through its ÍDteracción with RS, a protein anchor of the enzyme PPl and its substrates on glycogen particles. Moreover, the interaction of laforina with malina, the second 'protein described as responsible for the disease, suggests that both are complex and thus participate together in the same metabolic pathway inside the cell 10 explaining that mutations in one of the proteins cause disease phenotype identical. We have also confirmed that laforina interacts with AMPK. A kinase that is involved in controlling the energy balance of the cell. One of the functions of AMPK, activated in response to stress, exercise or lack of nutrients, is the inhibition of glycogen synthesis by phosphorylation of key enzymes. Our results confirm that AMPK is also capable of fosforilar in vitro laforina and RS, establishing a new link in laforina both control metaboliMO of glycogen with the cellular energy balance, which could explain the symptoms of enfennedad qUe Studied with Lafora Corps, epilepsy and neurodegeneration. The interactions with other proteins, Rm1BPM, RFP, PIASy And Pa1s1 suggest the existence of one or more complex multiproteicos where laforina and malina may exercise a regulatory role in various cellular processes.

Author: BALLESTEROS REDONDO ISABEL.
Year: 2004.
University: COMPLUTENSE DE MADRID [More theses of this university] [www.ucm.es].
Place of defense: FACULTAD CIENCIAS BIOLÓGICAS.
Place of preparation: FACULTAD DE BIOLOGÍA.

Summary: By RAPD technique has detected a band called F13c, which varied in the pattern of amplification for all plants regenerated albino not the same thing happening in green plants regenerated from the same cell line. El análisis de la secuencia de F13c indica que presenta similitud con secuencias relacionadas con retrotransposones. In analyzing by inverse PCR, a fragment of 7 Kb corresponding to the regions adjacent to this sequence is found that this is a mitochondrial sequence. It has been found, using the technique of quantitative PCR, the increase in the number of copies of F13c and two other mitochondrial sequences of rye (coxIII and atpA) in albino plants and calluses, noting that in these cases there is a general increase in the number of mitochondrial DNA molecules. We analyzed the presence of this sequence in the genomes of related species phylogenetically with rye. They are used species of the family Poaceae, preferably studying the group belonging to the tribe Triticeae. This analysis suggests that this block has been integrated into the mitochondria at the beginning of the evolution of the subfamily might have lost this sequence. Al utilizar esta secuencia para inferir relaciones citoplásmicas dentro de la subfamilia Pooideae mediante tres métodos distintos (distancia, parsimonia e inferencia Bayesiana) se comprueba que la tasa de sustitución nucleótidica es muy baja y que, en este caso, las inserciones y deleciones en la secuencia F13c were phylogenetically informative. It has demonstrated the usefulness of mitochondrial non-coding sequences to establish the evolutionary relationships between species coming. It has also been detected the presence of heteroplasmia mitochondrial on species analyzed in this subfamily.

Author: RUBIO MOSCARDÓ FRANCISCA.
Year: 2004.
University: VALENCIA [More theses of this university] [www.uv.es].
Place of defense: Facultad de Matemáticas.
Place of preparation: HOSPITAL CLÍNICO UNIVERSITARIO DE VALENCIA.

Summary: The mantle cell lymphoma (LCM) is a type of non-Hodgkin's lymphomas (LNH-B) caused by laproliferación neoplastic B lymphocytes from the area of the mantle follicular lymph node, typically in a stadium prior to the passage by the germinal center . Ellinfoma Mantle (LCM) accounts for 5-10% of LNH-By is usually manifested in individuals older (average age of 60 years) and predominantly male. Patients with lymphoma Mantle (LCM) may submit a nodal disease or leucémica. The molecular determinants that lead to this different clinical presentation are not well known. Therefore, in ct to identify a pattern of genomic alterations characteristic of LCM and try correlacionarlo with different forms of clinical presentation of the disease, a prímer study that compared the pattern of genomic alterations in a group of 28 patients with LCM with the t (II, 14) (qI3; q32) with presentation Nodal or leucémica, using the techniques of comparative genomic hybridization (CGH) and hybridization with fluorescence "in situ" (FISH) for specific gene locus. While both forms of clinical presentation of LCM, and leukaemic nodal have a similar genomic pattern, the loss of the short arm of chromosome 8 was more frequent in patients with leucémica (79% vs 11%, p less than 0.001). The loss genomics 8p was later described as a frequent alteration in LCM. However, the association of lost 8p to leucemización of LCM has not been conf1rmada in this work. Subsequent studies loss heterocigosidad (LOH), and to a lesser extent, comparative genomic hybridization (CGH), showed that the allelic loss in the short arm of chromium soma 8 (8p) is not only prevalent in LCM but it is one of the most common alterations in other LNH-By in various epithelial cancers. This alteration has been described in a 30-60% of carcinomas of the prostate, breast, liver, lung, head and neck, colo-rectal, ovary, bladder and medulloblastoma. Clinically, most studies associated with this chromosome loss in advanced stage tumors, disease progression and metastatic disease. These data suggest the possible presence of a tumor suppressor gene on chromosome 8p, whose deletion may be associated with the spread leucémica and with a worse prognosis in patients with LCM and other malignancies. In order to determine a pattern characteristic of LCM and genomic profiling gene alterations ethical high resolution studied the tumor genomic profile of a seríe of LCM patients (n = 68) as well as a set of cell lines derived from LCM and other types of LNH-B (n = 33) using a high-resolution microarray-based comparative genomic hybridization (array-CGH) This study allowed us to establish a genomic profile in the LCM different from the rest of the LNH-B including deletions of lp21 and llq22.3 (ATM), the coincident amplification dellocus BMLl in 10p14 and deletion in 10p14, and the loss of 9q21-q22 unidentified previously. Specific changes were associated with a distinct subgroup of patients with LCM. Notably, 11 patients with LCM leucémico had a genomic profile differs from the cases of nodal LCM, including the deletion of 8p21.3 where the cluster of genes encoding TRAIL receptors (apoptosis inducing ligand-related factor tumor necrosis) (55% vs. 19% p = 0.01) and gain 8q24.1-10cus (46% vs. 14% p = 0.015). Additionally, LCM leucémicos presented frequently mutations IGHV (64% vs. 21% p = 0.009) with a preferential use of VH4- 39 (36% vs. 4% p = 0.005) and remained a clinical course má 8 s indole d26 nt. In variants blastoides, the increase in the number of gains and deletions of genes PI6/INK4 and TP53 was correlated with a worse prognosis, while the loss of lp21 was associated with prolonged survival (p = 0.02). In a multivariate analysis, the deletion of 9q21-q22 was the factor that best predicted a longer survival (HR: 6, CI :2.3-15 .7). it may be clinically useful in the LCM. The Gross deletion of chromosome 8p is a frequent event in the LCM and other subtypes of LNH-B, which suggests that this region could host a tumor suppressor gene implicated in the disease. To corroborate this hypothesis characterize these deletions in a series of patients and cell lines derived from different subtypes of LNH-B by combining array-CGH and hibrídación with fluorescence in situ (FISH). The overlapping regions of deletion allowed us to delineate a tiny region of deletion (MRD) from 600 Kb in 8p21.3, one cell line LCM (Z-138) which had a deletion monoalélica of 650 Kb. The MRD extends from the BAC RPII-382J24 more telomérico to RPl1-109B10 more centromérico and inclu and allocus of enes ue encoded plows the sequencing of the MRD-650 Kb present in the cell line Z-138 did not identify any mutation in the allele not delecionado of genes present in the region. No mutations were identified in the R gene in patients TRAIL nor cell lines derived from different LNH-B. The analysis of gene expression using cDNA of a microchip "Lymphochip" and quantitative RT-PCR showed low expression of genes TRAIL receptors, TRAIL-Rl and TRAIL-R2 as an event consisting of LNH-B with deletion of 8p21. 3. The inactivation was excluded by epigenetic mechanisms in analyzing the methylation of the promoters of these genes. Studies in vitro cell lines to demonstrate that TRAIL - induced apoptosis is dose-dependent gene and protein of TRAIL-Rl and TRAIL-R2 in many tumors. The resistance to apoptosis of the cell lines with a simple copy of 8p21.3 was revertidamediante restoration of the expression of TRAIL-Rl and TRAIL-R2 through transfeción gene. These data suggest that TRAIL-Rl and TRAIL-R2 act as a tumor suppressor gene dose-dependent gene so that the deletion monoalélica can damage the induction of apoptosis by TRAIL in LNH-B.

Author: PINEDA TOMÁS DAVID.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: FACULTAD DE BIOLOGÍA.
Place of preparation: DEPARTAMENTO DE GENÉTICA. UNIVERSIDAD DE BARCELONA.

Summary: This study identified the alleged network components gene involved in the regeneration of eyes in planarias. We isolated a fragment of the gene of opsina, Gtops. This gene is expressed in the bodies of neural cells fotoreceptoras. We identified 2 gene family Six / sineoculis in planarias: Gtsix 1 and Gtsix 3. The gene Gtsix 1 is expressed in the bodies of neural cells fotoreceptores the eyes adults planarias. This gene is necessary for the maintenance of the rule of differentiated cells fotoreceptoras and esecial for the regeneration of the eyes of these agencies. The gene Gtsix3 expressed in a group of cells involving the lymph cefálicos beyond the distal part of the branches that connect head lymph cefálicos with different sensors distributed along the margins of the head. Finally, we have identified two genes of the family Pax6; Pax6A and Pax6B, which are highly conserved in both species plenary Dujesia japonica and Girardia tigrina. Pax6A is much more similar to other proteins Pax6 that Pax6B, which would be known gene Pax6 more divergent. The counterparts Pax6 of planarias not show a clear ortología of genes duplicates of Drosophilia, eyeless and twin of eyeless, which suggests an independent duplication in some tríclado or platihelminto ancestral. Pax6A expressed in the central nervous system of planarias intact, marking both cells of the lymph cefálicos as the ventral nerve cord, and its expression is activated during procso of restoration of the head. Pax6B follows a pattern of expression but with a very similar expression levels much lower. It detected transcribed Pax6A and Pax6B in the photoreceptor cells only ultrastructural level, because problamente to the presence of a very limited number of these transcripts in these cells. The inactivation of Pax6A and Pax6B through the technique of RNAi is not allowed to observe any inhibition or maintenance of the rule of differentiated cells fotoreceptoras or regeneration of the eye. This leads us to suggest that genes Pax6 of planarias would not be essential to control the regeneration of the eye in planarias.

Author: FRIGOLA MAS JORDI.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of defense: AULA DE GRAUS.
Place of preparation: FACULTAT DE BIOLOGIA.

Summary: The two main objectives of this thesis are: 1) Conduct a comprehensive study. 2) Analysis and characterization of recurrent disturbances. In the genomic changes associated with colorectal cancer. In order to achieve these objectives. We developed a new technique for analyzing the changes in methylation. That call Amplification of InterMethylated Sites (AIMS). Since this technique. The results of this thesis is divided into two distinct groups. A first set of two comprehensive studies (first goal). And a second block of analysis especídicos (second objective). In the first comprehensive study analyzed the contribution of earnings i losses along the tumor process. The main conclusion of this work was the independence of these changes at the level of tumor characteristics (physiological and genetic). Just as forecasting and contribution to tumor progression. In the second study overall. We centramoso in the loss of genomic methylation and its relationship with the genomic damage and poor prognosis. Regarding the studies. In a first job have described elsilenciamiento epigenético gene síntasa of protaciclinas (PTGIS). This silencing occurs at a high frequency in colorectal cancer and is significantly associated with the degree of aneupliidia tumor. Finally, in the second specific study, we describe the silencing of an entire band epigenético cytogenetics (2q14.2). It describes the participation of genomic methylation and changes post-transcipcionales.

Author: PLANS CALAFELL VANESSA.
Year: 2004.
University: BARCELONA [More theses of this university] [www.ub.es].
Place of preparation: UNIVERSIDAD DE BARCELONA, FACULTAD DE BIOLOGÍA..

Author: CRUZ RODRÍGUEZ FERNANDO.
Year: 2004.
University: VIGO [More theses of this university] [www.uvigo.es].
Place of defense: FACULTAD DE BIOLOGÍA.
Place of preparation: FACULTAD DE BIOLOGÍA.

Summary: Six hundred and thirty-five DNA sequences from 35 species of mollusc s, were used as carriers to investigate the taxonomic distribution patterns polimononucleótidos (poly (A / T) and poly (G / C)) in different regions of genomic functionality. This study shows that the distribution of two types of polimononucleótidos does not conform to what is expected by chance in non-coding regions (intrones-UTR and DNA intergénico), while it makes in exons. This fact is explained by the selective restrictions that limit the expansion and contraction of the repetitions in coding regions. The distribution of class size is adjusted to a tandem exponentially decreasing with increasing the number of repetitions. This makes it possible to dismiss the existence of a size threshold for patinazo replication, a concept widely used in the models mutation, and supports the probability of the same behavior. The density of repetitions poly (AlT) is not correlated with the amount of DNA of the species studied, and could be more related to the rate of mutation of each genome and its A / T. Knowledge of the distribution of micro memorandum exceeding 1 pb in eukaryotes, it is essential to clarify the differential abundance of microsatellites under an evolutionary perspective. Using data from 3,165 DNA sequences from 326 species of bivalves, have studied the patterns of distribution of microsatellites in different genomic regions. Some reasons microsatellites bivalves show densities genomic lowest observed in eukaryotes, which could be related to excess polimononucleótidos observed in some species. It articulates the paradox of microsatellites that, with a closely related species genome size similar show remarkable differences in wealth microsatellites. The data show non-random distribution of microsatellites, which are overrepresented in introns (245 10ci/Mb) compared to their frequency in exons (85 loci / Mb). Given that the polymorphism of microsatellites that mapped into non-coding regions will behave neutrally, it is imperative to check the neutrality of the markers used in applied studies. These investigations are relevant to improving our understanding of the forces that shape the distribution of micro-molluscs, and optimize mutation and evolution models proposed for microsatellites.