A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region
Section snippets
Results
We screened 1563 men and found 25 who lacked sY1191 but possessed all flanking STSs (Fig. 1A and Table 1, Table 2). This STS pattern differs from previously described deletions that affect AZFc, including the b1/b3 and gr/gr deletions [3], [9], [10]. We investigated the nature of the new deletion in light of the observation that homologous recombination between amplicons causes nearly all previously described interstitial Y-chromosomal deletions involving AZFc [3], [9], [10]. Inspection of the
Discussion
The b2/b3 deletion removes 1.8 Mb of AZFc—a region essential for normal spermatogenesis—including 12 testes-specific genes or transcripts (Table 3); thus, the age, persistence, and geographical range of branch N Y chromosomes are surprising. Furthermore, a different deletion, the gr/gr deletion, has similar size and gene content (Fig. 1A and Table 3) and predisposes to spermatogenic failure [9].
It is not known whether the AZFc gene copies retained on b2/b3-deleted chromosomes are functionally
Men studied
Men with spermatogenic failure (Table 1) were patients from the Academic Medical Center and patients studied at the Whitehead Institute, all with idiopathic nonobstructive azoospermia (no sperm in semen) or idiopathic severe oligozoospermia (sperm count <107/ml or total sperm count <2 × 107). Men with normal spermatogenesis (Table 1) were patients from the Academic Medical Center with total sperm count >4 × 107 and normal sperm motility and morphology. Men with unknown spermatogenesis (Table 1)
Acknowledgements
We thank J. Alfoldi, J. Hughes, J. Koubova, P. Lombardi, S. Mastenbroek, H. Skaletsky, J. de Vries, and H. Westerveld for comments on the manuscript; M. Alamares, R.E. Berger, D.L. Bluestein, C. Bruning, C. Disteche, A.E. Donnenfeld, N.A. Ellis, S. Fallet, A. Garguilo, J.L. German, B.R. Gilbert, D. Gurwitz, M.F. Hammer, W.A. Hogge, J. Hoo, M. Jamehdor, T. Jenkins, K. Keppler, K. Monaghan, P. Patrizio, E. Pergament, J.C. Petrozza, K. Phelan, J. Popovic, B. Shapiro, M.C. Summers, U. Surti, J.
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