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Identifier uch.biology.phd//1997DIS138
Title Μελέτη της δομής και λειτουργίας των γονιδίων της γλουταμικής αφυδρο- γόνασης στον ποντικό και στον άνθρωπο. Μοριακή ανάλυση του γονιδίου GLUD1 σε ορισμένες μορφές νευρολογικών διαταραχών του ανθρώπου
Alternative Title Structural and functional analysis of mouse and human Glutamate demydrogenase genes. Molecular analysis of GLUD1 gene in certain human neurological dise ases
Author Τζημαγιώργης, Γεώργιος Χ
Thesis advisor Μοσχονάς, Νικόλαος
Abstract The aim of this study was the structural and functional analysis of glutamate dehydrogenase gene family both in mouse and human and also the elucidation of the molecular basis of familiar and sporadic forms of certain human degenerative disorders associated with a deficiency of glutamate dehydrogenase. In this contest we isolated and characterazed a full length mouse brain GLUD cDNA. Mapping studies by using a well-characterized panel of somatic cell hybrids revealed the existence of two mouse glutamate dehydrogenase genes located on Chromosone 14 (GLUD) and 7 (GLUD-2). Perliminary analysisof these loci revealed that the Glud lower is the functional gene, while Glud-2 rapresents a fruncafed pseudogene. The stucture of the promotor of Glud gene has the characteristics of the housekee ping promoters. Northern blot analysis revealed the presence of two GLUD mRNAs species differing both in size and the relative abundances. Preliminary Southern blot analysis showed a complex hybridization pattern in aggreement with the presence of a small GLUDgene family in humans. The decreased GLUD mRNA levels in patients with olivopontocerebellar atrophy are not due to mutations in GLUD1 locur.
Language Greek
Subject Άνθρωπος/ ποντικός; Γλουταμινική Αφυθρογόναση; Γονιδιακή έκφραση; Κλωνοποίηση; Νευροεκφύλιση; Χρωμοσωμική χαρτογράφηση
Issue date 1997-03-13
Collection   School/Department--School of Sciences and Engineering--Department of Biology--Doctoral theses
  Type of Work--Doctoral theses
Permanent Link https://elocus.lib.uoc.gr//dlib/7/b/e/metadata-dlib-1997DIS138.tkl Bookmark and Share
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