The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

Article

关键词: HUMAN X-CHROMOSOME;    HUMAN GENOME;    SEX-CHROMOSOME;    INTRACHROMOSOMAL RECOMBINATION;    DROSOPHILA-MELANOGASTER;    HUMAN CENTROMERE;    GENE CONVERSION;    TURNER SYNDROME;    SHORT ARM;    MAP;   

DOI  :  10.1038/nature01722

来源: SCIE

【 摘 要 】

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.

【 授权许可】

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