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. 2003 Jun 19;423(6942):825-37.
doi: 10.1038/nature01722.

The Male-Specific Region of the Human Y Chromosome Is a Mosaic of Discrete Sequence Classes

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The Male-Specific Region of the Human Y Chromosome Is a Mosaic of Discrete Sequence Classes

Helen Skaletsky et al. Nature. .

Abstract

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.

Comment in

  • Tales of the Y chromosome.
    Willard HF. Willard HF. Nature. 2003 Jun 19;423(6942):810-1, 813. doi: 10.1038/423810a. Nature. 2003. PMID: 12815408 No abstract available.

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