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1.
Nature ; 424(6945): 157-64, 2003 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-12853948

RESUMO

Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.


Assuntos
Cromossomos Humanos Par 7 , Animais , Sequência de Bases , Duplicação Gênica , Humanos , Camundongos , Dados de Sequência Molecular , Mapeamento Físico do Cromossomo , Proteínas/genética , Pseudogenes , RNA não Traduzido , Análise de Sequência de DNA , Especificidade da Espécie , Síndrome de Williams/genética
2.
Nature ; 423(6942): 825-37, 2003 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-12815422

RESUMO

The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome. The X-degenerate sequences are remnants of ancient autosomes from which the modern X and Y chromosomes evolved. The ampliconic class includes large regions (about 30% of the MSY euchromatin) where sequence pairs show greater than 99.9% identity, which is maintained by frequent gene conversion (non-reciprocal transfer). The most prominent features here are eight massive palindromes, at least six of which contain testis genes.


Assuntos
Cromossomos Humanos Y/genética , Evolução Molecular , Processos de Determinação Sexual , Transducina , Cromossomos Humanos X/genética , Troca Genética/genética , Elementos de DNA Transponíveis/genética , Eucromatina/genética , Feminino , Amplificação de Genes/genética , Conversão Gênica/genética , Genes/genética , Heterocromatina/genética , Humanos , Hibridização in Situ Fluorescente , Masculino , Modelos Genéticos , Família Multigênica/genética , Especificidade de Órgãos , Pseudogenes/genética , Homologia de Sequência do Ácido Nucleico , Caracteres Sexuais , Especificidade da Espécie , Testículo/metabolismo , Transcrição Gênica/genética
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