title: The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
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.
authors.affiliation: Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA.
authors.forename: Helen
authors.initials: H
authors.lastname: Skaletsky
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kuroda-Kawaguchi
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Minx
authors.forename: Holland S
authors.initials: HS
authors.lastname: Cordum
authors.forename: LaDeana
authors.initials: L
authors.lastname: Hillier
authors.forename: Laura G
authors.initials: LG
authors.lastname: Brown
authors.forename: Sjoerd
authors.initials: S
authors.lastname: Repping
authors.forename: Tatyana
authors.initials: T
authors.lastname: Pyntikova
authors.forename: Johar
authors.initials: J
authors.lastname: Ali
authors.forename: Tamberlyn
authors.initials: T
authors.lastname: Bieri
authors.forename: Asif
authors.initials: A
authors.lastname: Chinwalla
authors.forename: Andrew
authors.initials: A
authors.lastname: Delehaunty
authors.forename: Kim
authors.initials: K
authors.lastname: Delehaunty
authors.forename: Hui
authors.initials: H
authors.lastname: Du
authors.forename: Ginger
authors.initials: G
authors.lastname: Fewell
authors.forename: Lucinda
authors.initials: L
authors.lastname: Fulton
authors.forename: Robert
authors.initials: R
authors.lastname: Fulton
authors.forename: Tina
authors.initials: T
authors.lastname: Graves
authors.forename: Shun-Fang
authors.initials: SF
authors.lastname: Hou
authors.forename: Philip
authors.initials: P
authors.lastname: Latrielle
authors.forename: Shawn
authors.initials: S
authors.lastname: Leonard
authors.forename: Elaine
authors.initials: E
authors.lastname: Mardis
authors.forename: Rachel
authors.initials: R
authors.lastname: Maupin
authors.forename: John
authors.initials: J
authors.lastname: McPherson
authors.forename: Tracie
authors.initials: T
authors.lastname: Miner
authors.forename: William
authors.initials: W
authors.lastname: Nash
authors.forename: Christine
authors.initials: C
authors.lastname: Nguyen
authors.forename: Philip
authors.initials: P
authors.lastname: Ozersky
authors.forename: Kymberlie
authors.initials: K
authors.lastname: Pepin
authors.forename: Susan
authors.initials: S
authors.lastname: Rock
authors.forename: Tracy
authors.initials: T
authors.lastname: Rohlfing
authors.forename: Kelsi
authors.initials: K
authors.lastname: Scott
authors.forename: Brian
authors.initials: B
authors.lastname: Schultz
authors.forename: Cindy
authors.initials: C
authors.lastname: Strong
authors.forename: Aye
authors.initials: A
authors.lastname: Tin-Wollam
authors.forename: Shiaw-Pyng
authors.initials: SP
authors.lastname: Yang
authors.forename: Robert H
authors.initials: RH
authors.lastname: Waterston
authors.forename: Richard K
authors.initials: RK
authors.lastname: Wilson
authors.forename: Steve
authors.initials: S
authors.lastname: Rozen
authors.forename: David C
authors.initials: DC
authors.lastname: Page
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics; D004251:DNA Transposable Elements / Q000235:genetics; D022041:Euchromatin / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D005784:Gene Amplification / Q000235:genetics; D005785:Gene Conversion / Q000235:genetics; D005796:Genes / Q000235:genetics; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008957:Models, Genetic; D005810:Multigene Family / Q000235:genetics; D009928:Organ Specificity; D011544:Pseudogenes / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D012727:Sex Characteristics; D019849:Sex Determination Processes; D013045:Species Specificity; D013737:Testis / Q000378:metabolism; D014158:Transcription, Genetic / Q000235:genetics; D015293:Transducin
chemical_list: D004251:DNA Transposable Elements; D022041:Euchromatin; D006570:Heterochromatin; C485612:TBL1Y protein, human; D015293:Transducin