ANTHROPOLOGICAL GENETICS

Author: ANDRES MORAN AIDA.
Year: 2003.
University: POMPEU FABRA [www.upf.edu].
Place of defense: DEPARTAMENTO DE CIENCIAS EXPERIMENTALES Y DE SALUD.
Place of preparation: DEPARTAMENTO DE CIENCIAS EXPERIMENTALES Y DE LA SALUD.

Summary: The thesis focuses on the study purchased with different human populations as well as various species (humans, bonobos, chimpanzees, gorillas and orangutans) two sets of brain gene expression. First, it examines the dynamics mutacional, the selective pressure and demographic history that affects the current status of various genetic markers implicated in disease. These markers, of trinucleótidos CAG repeats, causing the emergence of genetic diseases in humans to mutate. The comparative study allows for the reconstruction of its evolution, the origin of the disease in some cases, and only human characteristics that can cause the onset of the disease. Secondly, we study the evolution of genes involved in the function of the neurotransmitter serotonin, a cornerstone for the normal development of the central nervous system, as well as for a proper learning and behavior control. Specifically, it has analyzed the influence of natural selection has had on the evolution of individual genes that are part of the route functional neurotransmitter, in order to better understand the specific role of each gene in the correct operation the system as possible pathological alterations.

Author: BAHAMONDE SANTOS MARIA ISABEL.
Year: 2003.
University: POMPEU FABRA [www.upf.edu].
Place of defense: DEPARTAMENTO DE CIENCIAS EXPERIMENTALES Y DE LA SALUD.
Place of preparation: DEPARTAMENTO DE CIENCIAS EXPERIMENTALES Y DE LA SALUD.

Summary: The discovery in our laboratory modulation by E2 and AE channel Maxi-Cl- has helped address the study and functional relevance of this channel. Exposure of fibroblastic cells of origin (NIH3T3) and neroblástico (C1300) to anti-estrogen (AE, toremifene and tamoxifen) activated channel Maxi-Cl- in shaping electrophysiological whole cell (whole cell), thus enabling the study of Maxi- Cl in cell membranes without splitting. The pretreatment of cells with 17? Estradiol prevents or cAMP activation AE delas flow channel Maxi-Cl-. This inhibitory effect was abrogated in the presence of estaurosporina, an inhibitor of protein kinases that fosrolan waste type serine / threonine. The activation of the channel by AE also can be prevented by the addition of acid intracellular okadaico (AO, 1 nM), a toxin that this concentration completely inhibits the activity of protein phosphatase 2A (PP2A). However, the total activity of PP2A is not changed in cells exposed to both estradiol and tniestrógenos, it is not yet fully clarified the process by which phosphatase 2A acts to modulate the channel. Our hypothesis is that the channel Maxi-Cl remains closed through an event phosphorylation of the channel or even regulatory protein associated with this. In the presence of AE; channel is activated by a process desforforilación through the action of a phosphatase type PP2A. A major obstacle in the study of regulation by E2 and EA's Maxi-Cl- was ignorance of the identity molecular Maxi-Cl. The electrophysiological properties of Maxi-Cl- is similar to those described for the channel anionic VDAC, an integral membrane protein that abounds in the outer membrane of mitochondria. This protein provides the main route for the transport of various substrates such as ATP and coleterol and has been involved in the process of mitochondrial apoptosis. The hypothesis that the VDAC could correspond to correlate molecular channel membrane Maxi-Cl- has been debated and questioned by several researchers. Recent observations support the presence of the protein VDAC in the plasma membrane (VDACpl) of different cell types. The experimental results presented in this thesis show the presence of an isoform of VDAC in the plasma membrane of the cells C1300 t NIH3T3. It used different techniques such as RT-PCR using primers that hybrid directly with the complete sequence of VDACpl; inmunodetección proteins on nitrocellulose support, using the monoclonal antibody against the trade of VDAC human peptide (31HL, Ab-2) ; indirect immunofluorescence using the same monoclonal antibody commercial Ab-2. Experiments inmunolocalización of VDAC by confocal microscopy also helped identify for the first time a preferential localization of VDAC on a set of peripheral mitochondria is not the perinucleares- both in fibroblast NIH3T3 as in neuroblastos C1300. The relationship between the protein VDAC and channel Maxi-Cl-activado by anti-estrogen, was investigated using antisense oligonucleotides against the VDACpl. The incubation of the cells C1300 with the antisense sequence against the leader of VDACpl, sharply reduces the expression of VDAC and flow channel Maxi-Cl- activities by the antiestrogen pemifeno. Once demonstrated the association between protein VDAC and channel Maxi-Cl- began cloning channel VDACpl in the two cell types where it had documented the activation of Maxi-Cl- by AE (C1300 and NIH3T3). The analysis of the consequences obtained revealed that two were identical, and thus would be the same protein, despite the fact that some of the electrophysiological characteristics of Maxi-C- differs in the two cell types. Finally, mediatne an essay of ATP (reaction luciferina / luciferasa), it was demonstrated that the channel Maxi-Cl- activated anties 8 trógenos 5c7 could serve as a route out of the ATP cytosolic. In summary, the data confirm the presence of the protein VDAC in the plasma membrane and mitochondria in more peripheral, not in mitocondrías `perinuclear of cells C1300 and NIH3T3. The role of VDAC in the plasma membrane is not yet clear. Based on the electrophysiological experiments and release of ATP, it is postulated that this channel is involved in the output of ATP, and therefore the deprivation of metabolic cells exposed to AE. However, it is unknown whether this channel of the plasma membrane may be functionally coupled to VDAC mitochondrial anion channel, or whether this could be involved in the process of cell apoptosis mediated by anti-estrogen.

Author: VAZQUEZ MAZARIEGO MARIA YOLANDA.
Year: 2003.
University: AUTÓNOMA DE MADRID [www.uam.es].
Place of defense: FACULTAD DE CIENCIAS DEL DEPARTAMENTO DE BIOLOGIA.
Place of preparation: HOSPITAL RAMON Y CAJAL.

Summary: We analyzed 69 samples of lymphoma from bone marrow, peripheral blood and lymph nodes, using traditional cytogenetic techniques, Fluorescent In Situ Hybridization (HISF) and Reaction polymerase chain (PCR) to detect three points of breaking the t (14, 18): A point of rupture higher (MBR), and two break points lower (mcr). After his analysis were characterized the chromosomal abnormalities found cytogenetic and obtained the frequency of reordering bcl2/JH by molecular techniques. The results indicate that lymphomas are a very heterogeneous entity and that the rearrangement bcl2/JH can be found associated with various types of lymphomas. The conclusion of the study showed that both techniques cytogenetic analysis of chromosome as PCR molecular techniques are appropriate and useful to understand and aid in the diagnosis of lymphomas.

Author: PEREIRA SANTOS CRISTINA M..
Year: 2004.
University: AUTÓNOMA DE BARCELONA [www.uab.es].
Place of defense: FACULTAD DE CIENCIAS.
Place of preparation: ESCUELA DE POSTGRADO.

Summary: This thesis is composed of two main blocks, one focusing on the characterization biodemográfica and Genetics (using mtDNA) of the population of the archipelago of the Azores (Portugal) and the other focused on the same mitochondrial DNA (DNAmt), specifically in development a methodology for the classification and haplogrupos population in the study of the rate of mutation in the region of control. To proceed with the characterization biodemográfica and genetics of the archipelago of the Azores and indifference about the origin of their inhabitants, have been used different approaches: 1-Study DNAmt in subjects unrelated home azoreano, representative of the 3 groups of islands : Eastern, Central and Western. 2-characterization of the genetic structure of the island of Flores over time (West Group) using surnames. 3-Characterization biodemográfica (inbreeding, outbreeding, inbreeding and migration) of the different parishes of Flores (West Group) for the period between 1675 and 1875. The results suggest the following points: 1 - The people of the Azores comes as a people with values of middle inbreeding and inbreeding values similar to those obtained for mainland Portugal and other towns in southern Europe. 2 - When viewed globally archipelago, the "pool" of genetic mitochondrial the azoreanos is highly diverse, although the Western group differs in a significant way over the other two island groups. 3 - The sharp decline in population that occurred across the archipelago, particularly in Flores, does not seem to have had a significant impact on the genetic structure of the island's population. 4 - The analysis filogeográfico of DNAmt has helped verify that the vast majority of the lineages of DNAmt found in the Azores have their origin in European populations, mostly in mainland Portugal. In addition, it has been possible to identify lineages typical African peoples and populations of the Middle East. In relation to the study of DNAmt, has developed a methodology that allows hierarchical classification DNAmt in haplogrupos populations caucasoides. And the analysis of DNAmt in families of origin azoreano, has led to the following claims: 1 - The heteroplasmia can not be regarded as a unique status, as is mostly set, a phenomenon not uncommon. 2 - There is a possibility that the DNAmt recombine. 3, - have not been verified parental contribution of the same. 4 - The value of the rate of mutation for D-loop is 4.1878 x 10-6 mutations / pb / generation, a value which is at the upper range of values obtained in the phylogenetic estimates.

Author: ALGUACIL ALGARRADA MARCOS.
Year: 2005.
University: PABLO DE OLAVIDE [www.upo.es].
Place of defense: FACULTAD DE CIENCIAS EXPERIMENTALES.
Place of preparation: FACULTAD DE CIENCIAS EXPERIMENTALES.

Summary: The present paper describes the development of molecular techniques for the detection of populations of yeast Brettanomyces genres / Dekkera in wine samples, and its application to the entire process of production of fine wine in the Wine Osborne. During the same have been able to determine the mechanisms of entry of yeast in wine cellar, the molecular identification of the different variants present in various wineries, the consequence of the growth in wine and techniques aimed at its eradication. As a result of this work, the application of these techniques in detecting the cave, is now a more routine tasks of the Department of Microbiology of the company, and changes have been made in the production process that greatly reduce the presence this pollutant in the cellar.

Author: SANTINO MUÑOZ ANDREA FABIOLA.
Year: 2005.
University: PABLO DE OLAVIDE [www.upo.es].
Place of defense: FACULTAD DE CIENCIAS EXPERIMENTALES.
Place of preparation: FACULTAD DE CIENCIAS EXPERIMENTALES.

Summary: This thesis has been characterized a heat-sensitive mutant (swo1-w1) gene coding for the protein heat shock Hsp90 in the fission yeast Schizosaccharomyces pombe, called swo1. This presents an allele phenotype virtually indistinguishable from a wild 25Â ° C (temperature permissive growth), but 36Â ° C (restrictive temperature) introduced a phenotype defectivo in cell division, which manifested long cells with many nuclei and a clear defect citocinesis that means that the cells can not be separated after the division. This defect is obvious from cells stained with calcofluor, which highlights the cell wall that forms the septum division, and also noted in the various components of the ring actomiosina who leads the citocinesis. Studies in this work suggest that the protein heat shock Hsp90 participates in the assembly early ring actomiosina. Through genetic analysis of mutant swo1-w1 with different alleles of proteins involved in this process, it has been determined the involvement of a kinase important cell cycle: Plo1, which has been that physically interact with Hsp90/Swo1, interaction ATP-dependent. It has also been confirmed the physical interaction between Hsp90/Swo1 and Cdc2, the kinase responsible for the entry into mitosis, in this case the interaction is independent of ATP, suggesting that each kinase participates in a complex of Hsp90/Swo1 different. Lastly have been analyzed sobreexpresiones two proteins associated with Hsp90: p23/Wos2 and Cdc37 and its ability to eliminate synthetic lethal phenotypes produced by swo1-w1 in combination with other alleles.

Author: LAHOZ RUANO AURELIA M..
Year: 2005.
University: PABLO DE OLAVIDE [www.upo.es].
Place of defense: FACULTAD DE EXPERIMENTALES.
Place of preparation: FACULTAD DE EXPERIMENTALES.

Summary: In the thesis, characterized the role of the protein Etd1p in citocinesis and Pab1p, a regulatory subunit B phosphatase type 2, has been implicated in the regulation of citocinesis and morphogenesis in S.pombe. Giving evidence of a possible communication between the two routes to be conducted in a proper manner division. On the one hand Etd1p is a protein that is located at the poles of growth and site septación, and also varies over the cycle reaching its highest expression during the contraction of the middle ring and synthesis of the septum. The results exposed concludes that Etd1p is a protein essential for maintaining the path WITHOUT active during the contraction of the ring actinomiosina and the formation of the septum. The fatality suffered by the lack of Etd1p is suprimidad by a mutation in the gene pab1. Pab1p is a protein that interacts with the protein Cdc11, Sid1, Mob1 and Sid2, proteins essential to the contraction of the ring and the synthesis of septum, indicating a possible role regulator Pab1p in septación. Moreover Pab1p appears to have a functional role in regulating the path of morphogenesis dependent Ras1-Cdc42. Pab1p appears to be involved in regulating the activity -1.3 -glucan synthase. Specifically, the inhibition of this activity. So a mutation in pab1, achieve higher activity -1.3 -glucan synthase and therefore can remove defects citocinesis certain mutants involved in septación.

Author: ALZUALDE ZULOAGA AINHOA.
Year: 2005.
University: PAÍS VASCO [www.ehu.es].
Place of defense: FACULTAD DE CIENCIA Y TECNOLOGÍA.
Place of preparation: FACULTAD DE CIENCIAS UPV/EHU.

Summary: The present work has been carried out the genetic characterization of the population old Aldaieta (S. VI -VII AD), which are settled in the territory basque, however, presents a culture norpierenacia (Franca). It has analyzed the variability of mitochondrial DNA and cromosoma-Y to interpret the genetic variability found in the necropolis in the context of both the ancient populations of Basque Country, as the current EU. It has also analyzed the possible links of kinship in the population and have been interpreted funerary practices, in order to approach the biosocial behavior of the population. The data show that the substrate mitochondrial genetics of the population of Aldaieta is part of the variability presents the current populations of the cornice Cantabrian therefore suggest that the influence of groups norpirenaicos was mainly cultural. However, the joint analysis of all data on DNA ancient Basque Country existing so far indicates the existence of some gene flow between populations of the European Atlantic axis, including the territory basque. Similarly, the mitochondrial lineages, on the one hand, suggest that this area was not outside the movements migracionales occurred during the Neolithic and on the other hand, indicate the existence of some gene flow prior to the Islamic conquest between North Africa and Iberian Peninsula through the Strait of Gibraltar. The genetic profiling has identified the existence of different family groups in the necropolis, and the analysis of data along with the cultural genetic allows us to suggest that Aldaieta represents an unequal society and / or hierarchical. One of the scenarios that could explain the presence of both cultural elements "frank" in this necropolis of the Basque Country, as described inequalities in society, is that it could have been a phenomenon of identity France, through the prestige gained after service the army provided free by some members of the population. Based on genetic data, we suggest that these prominent members at the social and / or economic status that could have transmitted to other members of their family. It is reasonable to suspect that they might be consolidating local and regional authorities of the time.