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

Helen Skaletsky, Tomoko Kuroda-Kawaguchl, Patrick J. Minx, Holland S. Cordum, La Deana Hlllier, Laura G. Brown, Sjoerd Repplng, Tatyana Pyntikova, Johar All, Tamberlyn Blerl, Asif Chinwalla, Andrew Delehaunty, Hui Du, Glnger Fewell, Lucinda Fulton, Robert Fulton, Tina Graves, Shun Fang Hou, Phllip Latrielle, Shawn LeonardElaine Mardis, Rachel Maupin, John Douglas Mcpherson, Tracie Miner, Wllliam Nash, Christine Nguyen, Philip Ozersky, Kymberlle Pepin, Susan Rock, Tracy Rohlfing, Kelsi Scott, Brian Schultz, Cindy Strong, Aye Tin-Wollam, Shlaw Pyng Yang, Robert H. Waterston, Richard K. Wllson, Steve Rozen, David C. Page

Research output: Contribution to journalArticle

1359 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)825-837
Number of pages13
JournalNature
Volume423
Issue number6942
DOIs
StatePublished - Jun 19 2003
Externally publishedYes

Fingerprint

Chromosomes, Human, Y
Y Chromosome
X Chromosome
Euchromatin
Gene Conversion
Testis
Proteins
Chromosomes
Genes

ASJC Scopus subject areas

  • Medicine(all)
  • General

Cite this

Skaletsky, H., Kuroda-Kawaguchl, T., Minx, P. J., Cordum, H. S., Hlllier, L. D., Brown, L. G., ... Page, D. C. (2003). The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature, 423(6942), 825-837. https://doi.org/10.1038/nature01722

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. / Skaletsky, Helen; Kuroda-Kawaguchl, Tomoko; Minx, Patrick J.; Cordum, Holland S.; Hlllier, La Deana; Brown, Laura G.; Repplng, Sjoerd; Pyntikova, Tatyana; All, Johar; Blerl, Tamberlyn; Chinwalla, Asif; Delehaunty, Andrew; Du, Hui; Fewell, Glnger; Fulton, Lucinda; Fulton, Robert; Graves, Tina; Hou, Shun Fang; Latrielle, Phllip; Leonard, Shawn; Mardis, Elaine; Maupin, Rachel; Mcpherson, John Douglas; Miner, Tracie; Nash, Wllliam; Nguyen, Christine; Ozersky, Philip; Pepin, Kymberlle; Rock, Susan; Rohlfing, Tracy; Scott, Kelsi; Schultz, Brian; Strong, Cindy; Tin-Wollam, Aye; Yang, Shlaw Pyng; Waterston, Robert H.; Wllson, Richard K.; Rozen, Steve; Page, David C.

In: Nature, Vol. 423, No. 6942, 19.06.2003, p. 825-837.

Research output: Contribution to journalArticle

Skaletsky, H, Kuroda-Kawaguchl, T, Minx, PJ, Cordum, HS, Hlllier, LD, Brown, LG, Repplng, S, Pyntikova, T, All, J, Blerl, T, Chinwalla, A, Delehaunty, A, Du, H, Fewell, G, Fulton, L, Fulton, R, Graves, T, Hou, SF, Latrielle, P, Leonard, S, Mardis, E, Maupin, R, Mcpherson, JD, Miner, T, Nash, W, Nguyen, C, Ozersky, P, Pepin, K, Rock, S, Rohlfing, T, Scott, K, Schultz, B, Strong, C, Tin-Wollam, A, Yang, SP, Waterston, RH, Wllson, RK, Rozen, S & Page, DC 2003, 'The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes', Nature, vol. 423, no. 6942, pp. 825-837. https://doi.org/10.1038/nature01722
Skaletsky H, Kuroda-Kawaguchl T, Minx PJ, Cordum HS, Hlllier LD, Brown LG et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003 Jun 19;423(6942):825-837. https://doi.org/10.1038/nature01722
Skaletsky, Helen ; Kuroda-Kawaguchl, Tomoko ; Minx, Patrick J. ; Cordum, Holland S. ; Hlllier, La Deana ; Brown, Laura G. ; Repplng, Sjoerd ; Pyntikova, Tatyana ; All, Johar ; Blerl, Tamberlyn ; Chinwalla, Asif ; Delehaunty, Andrew ; Du, Hui ; Fewell, Glnger ; Fulton, Lucinda ; Fulton, Robert ; Graves, Tina ; Hou, Shun Fang ; Latrielle, Phllip ; Leonard, Shawn ; Mardis, Elaine ; Maupin, Rachel ; Mcpherson, John Douglas ; Miner, Tracie ; Nash, Wllliam ; Nguyen, Christine ; Ozersky, Philip ; Pepin, Kymberlle ; Rock, Susan ; Rohlfing, Tracy ; Scott, Kelsi ; Schultz, Brian ; Strong, Cindy ; Tin-Wollam, Aye ; Yang, Shlaw Pyng ; Waterston, Robert H. ; Wllson, Richard K. ; Rozen, Steve ; Page, David C. / The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. In: Nature. 2003 ; Vol. 423, No. 6942. pp. 825-837.
@article{416e533bcfed4d64a6157c9460e0d490,
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.",
author = "Helen Skaletsky and Tomoko Kuroda-Kawaguchl and Minx, {Patrick J.} and Cordum, {Holland S.} and Hlllier, {La Deana} and Brown, {Laura G.} and Sjoerd Repplng and Tatyana Pyntikova and Johar All and Tamberlyn Blerl and Asif Chinwalla and Andrew Delehaunty and Hui Du and Glnger Fewell and Lucinda Fulton and Robert Fulton and Tina Graves and Hou, {Shun Fang} and Phllip Latrielle and Shawn Leonard and Elaine Mardis and Rachel Maupin and Mcpherson, {John Douglas} and Tracie Miner and Wllliam Nash and Christine Nguyen and Philip Ozersky and Kymberlle Pepin and Susan Rock and Tracy Rohlfing and Kelsi Scott and Brian Schultz and Cindy Strong and Aye Tin-Wollam and Yang, {Shlaw Pyng} and Waterston, {Robert H.} and Wllson, {Richard K.} and Steve Rozen and Page, {David C.}",
year = "2003",
month = "6",
day = "19",
doi = "10.1038/nature01722",
language = "English (US)",
volume = "423",
pages = "825--837",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "6942",

}

TY - JOUR

T1 - The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

AU - Skaletsky, Helen

AU - Kuroda-Kawaguchl, Tomoko

AU - Minx, Patrick J.

AU - Cordum, Holland S.

AU - Hlllier, La Deana

AU - Brown, Laura G.

AU - Repplng, Sjoerd

AU - Pyntikova, Tatyana

AU - All, Johar

AU - Blerl, Tamberlyn

AU - Chinwalla, Asif

AU - Delehaunty, Andrew

AU - Du, Hui

AU - Fewell, Glnger

AU - Fulton, Lucinda

AU - Fulton, Robert

AU - Graves, Tina

AU - Hou, Shun Fang

AU - Latrielle, Phllip

AU - Leonard, Shawn

AU - Mardis, Elaine

AU - Maupin, Rachel

AU - Mcpherson, John Douglas

AU - Miner, Tracie

AU - Nash, Wllliam

AU - Nguyen, Christine

AU - Ozersky, Philip

AU - Pepin, Kymberlle

AU - Rock, Susan

AU - Rohlfing, Tracy

AU - Scott, Kelsi

AU - Schultz, Brian

AU - Strong, Cindy

AU - Tin-Wollam, Aye

AU - Yang, Shlaw Pyng

AU - Waterston, Robert H.

AU - Wllson, Richard K.

AU - Rozen, Steve

AU - Page, David C.

PY - 2003/6/19

Y1 - 2003/6/19

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0037967242&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037967242&partnerID=8YFLogxK

U2 - 10.1038/nature01722

DO - 10.1038/nature01722

M3 - Article

C2 - 12815422

AN - SCOPUS:0037967242

VL - 423

SP - 825

EP - 837

JO - Nature

JF - Nature

SN - 0028-0836

IS - 6942

ER -