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A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.

Publication ,  Journal Article
Repping, S; van Daalen, SKM; Korver, CM; Brown, LG; Marszalek, JD; Gianotten, J; Oates, RD; Silber, S; van der Veen, F; Page, DC; Rozen, S
Published in: Genomics
June 2004

The human Y chromosome is replete with amplicons-very large, nearly identical repeats-which render it susceptible to interstitial deletions that often cause spermatogenic failure. Here we describe a recurrent, 1.8-Mb deletion that removes half of the azoospermia factor c (AZFc) region, including 12 members of eight testis-specific gene families. We show that this "b2/b3" deletion arose at least four times in human history-likely on inverted variants of the AZFc region that we find exist as common polymorphisms. We observed the b2/b3 deletion primarily in one family of closely related Y chromosomes-branch N in the Y-chromosome genealogy-in which all chromosomes carried the deletion. This branch is known to be widely distributed in northern Eurasia, accounts for the majority of Y chromosomes in some populations, and appears to be several thousand years old. The population-genetic success of the b2/b3 deletion is surprising, (i) because it removes half of AZFc and (ii) because the gr/gr deletion, which removes a similar set of testis-specific genes, predisposes to spermatogenic failure. Our present findings suggest either that the b2/b3 deletion has at most a modest effect on fitness or that, within branch N, its effect has been counterbalanced by another genetic, possibly Y-linked, factor.

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Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

June 2004

Volume

83

Issue

6

Start / End Page

1046 / 1052

Location

United States

Related Subject Headings

  • Seminal Plasma Proteins
  • Pedigree
  • Oligospermia
  • Models, Genetic
  • Male
  • Interphase
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genetics & Heredity
  • Genetic Testing
 

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Repping, S., van Daalen, S. K. M., Korver, C. M., Brown, L. G., Marszalek, J. D., Gianotten, J., … Rozen, S. (2004). A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics, 83(6), 1046–1052. https://doi.org/10.1016/j.ygeno.2003.12.018
Repping, Sjoerd, Saskia K. M. van Daalen, Cindy M. Korver, Laura G. Brown, Janet D. Marszalek, Judith Gianotten, Robert D. Oates, et al. “A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.Genomics 83, no. 6 (June 2004): 1046–52. https://doi.org/10.1016/j.ygeno.2003.12.018.
Repping S, van Daalen SKM, Korver CM, Brown LG, Marszalek JD, Gianotten J, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004 Jun;83(6):1046–52.
Repping, Sjoerd, et al. “A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.Genomics, vol. 83, no. 6, June 2004, pp. 1046–52. Pubmed, doi:10.1016/j.ygeno.2003.12.018.
Repping S, van Daalen SKM, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC, Rozen S. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004 Jun;83(6):1046–1052.
Journal cover image

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

June 2004

Volume

83

Issue

6

Start / End Page

1046 / 1052

Location

United States

Related Subject Headings

  • Seminal Plasma Proteins
  • Pedigree
  • Oligospermia
  • Models, Genetic
  • Male
  • Interphase
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genetics & Heredity
  • Genetic Testing