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| REPETTO,GABRIELA M.. |
| Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin. The best characterized human disorders resulting from an alteration of the imprinting process are Angelman and Prader-Willi syndromes. They are due to the lack of active maternal or paternal genes, respectively, from chromosome region 15q11q13. Most cases arise via interstitial deletions. We review evidence that other common cytogenetic alterations of this region, interstitial and supernumerary duplications, could be the reciprocal products of the deletions and are also affected by the imprinting phenomenon, given the predominance of maternally-derived duplications in patients ascertained due to developmental delays or autistic features. |
| Tipo: Journal article |
Palavras-chave: Chromosome 15; Chromosome 15 deletions/duplications; Genomic imprinting. |
| Ano: 2001 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000200020 |
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| Rios,Álvaro F.L.; Lemos,Daniela C.; Fernandes,Maurício B.; Andrea,Maria V.; Gomes,Marcus V.M.; Lôbo,Raysildo B.; Mazucato,Mendelson; Ramos,Ester S.. |
| The CCCTC - binding factor (CTCF) is a protein involved in repression, activation, hormone-inducible gene silencing, functional reading of imprinted genes and X-chromosome inactivation. We analyzed CTCF gene expression in bovine peripheral blood, oocytes and in different cellular stages (2-4 cells, 8-16 cells, 16-32 cells, morulae, and blastocysts) of in vitro fertilized embryos. This is the first report of CTCF expression in oocytes and preimplantation bovine embryos and has implications for the production of embryonic stem cells and the development of novel medical technologies for humans. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CTCF; Genomic imprinting; Preimplantation embryos; X-inactivation. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600029 |
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| Miyamoto,Toshinobu; Sengoku,Kazuo; Hayashi,Hiroaki; Sasaki,Yoshihito; Jinno,Yoshihiro; Ishikawa,Mutsuo. |
| The GATM gene encodes L-arginine:glycine amidinotransferase, which catalyzes the conversion of L-arginine into guanidinoacetate, the rate-limiting step in the synthesis of creatine. Since, deficiencies in creatine synthesis and transport lead to certain forms of mental retardation in human, the human GATM gene appears to be involved in brain development. Recently it has been demonstrated that the mouse Gatm is expressed during development and is imprinted with maternal expression in the placenta and yolk sac, but not in embryonic tissues. We investigated the imprinting status of the human GATM by analyzing its expression in four human placentas. GATM was biallelically expressed, thus suggesting that this gene escapes genomic imprinting in placentas,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: GATM gene; Genomic imprinting; DNA polymorphism. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100008 |
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