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Molecular mechanisms for CMT1A duplication and HNPP deletion.
Boerkoel, C F; Inoue, K; Reiter, L T; Warner, L E; Lupski, J R.
Afiliação
  • Boerkoel CF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Ann N Y Acad Sci ; 883: 22-35, 1999 Sep 14.
Article em En | MEDLINE | ID: mdl-10586226
ABSTRACT
As the best characterized human genomic disorders, CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following (1) Recombination occurs between homologous sequences flanking the duplicated/deleted genomic segment. (2) The evolution of the mammalian genome may result in an architecture consisting of region-specific low-copy repeats that predispose to rearrangement secondary to providing homologous regions as substrate for recombination. (3) Strand exchange occurs preferentially in a region of perfect sequence identity within the flanking repeat sequences. (4) Double-strand breaks likely initiate recombination between the flanking repeats. (5) The mechanism and rate of homologous recombination resulting in DNA rearrangement may differ for male and female gametogenesis. (6) Homologous recombination resulting in DNA rearrangement occurs with high frequency in the human genome. (7) Genomic disorders result from structural features of the human genome and not population specific alleles or founder effects; therefore, genomic disorders appear to occur with equal frequencies in different world populations.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Doença de Charcot-Marie-Tooth / Deleção de Genes / Duplicação Gênica Limite: Female / Humans / Male Idioma: En Revista: Ann N Y Acad Sci Ano de publicação: 1999 Tipo de documento: Article País de afiliação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Doença de Charcot-Marie-Tooth / Deleção de Genes / Duplicação Gênica Limite: Female / Humans / Male Idioma: En Revista: Ann N Y Acad Sci Ano de publicação: 1999 Tipo de documento: Article País de afiliação: Estados Unidos