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 Leonard; Elaine Mardis; Rachel Maupin; John 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

doi:10.1038/nature01722

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 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

McDonnell Genome Institute (MGI)

Research output: Contribution to journal › Article › peer-review

1704 Scopus citations

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 language	English
Pages (from-to)	825-837
Number of pages	13
Journal	Nature
Volume	423
Issue number	6942
DOIs	https://doi.org/10.1038/nature01722
State	Published - Jun 19 2003

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Skaletsky, H., Kuroda-Kawaguchl, T., Minx, P. J., Cordum, H. S., Hlllier, L. D., Brown, L. G., Repplng, S., Pyntikova, T., All, J., Blerl, T., Chinwalla, A., Delehaunty, A., Du, H., Fewell, G., Fulton, L., Fulton, R., Graves, T., Hou, S. F., Latrielle, P., ... 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

@article{b9ed335b3bc64928b0ba488b2e54b04a,

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 John McPherson 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.}",

note = "Funding Information: Acknowledgements We thank R. Giardine, R. Oates and S. Silber for patient samples; and J. Alfoldi, C. Disteche, J. Koubova and J. Lange for comments on the manuscript. This work was supported by the National Institutes of Health and the Howard Hughes Medical Institute.",

year = "2003",

month = jun,

day = "19",

doi = "10.1038/nature01722",

language = "English",

volume = "423",

pages = "825--837",

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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, J, 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

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

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.

N1 - Funding Information: Acknowledgements We thank R. Giardine, R. Oates and S. Silber for patient samples; and J. Alfoldi, C. Disteche, J. Koubova and J. Lange for comments on the manuscript. This work was supported by the National Institutes of Health and the Howard Hughes Medical Institute.

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

U2 - 10.1038/nature01722

DO - 10.1038/nature01722

M3 - Article

C2 - 12815422

AN - SCOPUS:0037967242

SN - 0028-0836

VL - 423

SP - 825

EP - 837

JO - Nature

JF - Nature

IS - 6942

ER -

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

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