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Editorial
. 2009 Feb 26;360(9):925-7.
doi: 10.1056/NEJMe0900301.

The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene

Chris Tyler-Smith, Csilla Krausz
Editorial

The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene

Chris Tyler-Smith et al. N Engl J Med. .
No abstract available

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Figures

Figure 1
Figure 1. Known Deletions of the Azoospermia Factor Region a (AZFa) of the Human Y chromosome and Their Associated Spermatogenic Phenotypes
Part of the reference sequence, 1 Mb in length, of the Y chromosome is shown (top), highlighting ubiquitin-specific peptidase 9, Y-linked gene (USP9Y) and the DEAD (Asp–Glu–Ala–Asp) box polypeptide 3, Y-linked gene (DDX3Y) (red arrows) and the two human endogenous retrovirus sequences (HERVs) (orange boxes). Along the same sequence, regions are shown (bottom) as retained (black boxes) or missing (thin dotted line) in patients, including the standard AZFa deletion resulting from nonallelic homologous recombination between the two HERV sequences, as well as confirmed gene-specific deletions. Note the variability in phenotype associated with USP9Y-only deletions and the lack of known DDX3Y-only deletions. The white boxes in SAYER (described by Brown et al.6) indicate the extent of uncertainty in the location of the breakpoint in this patient, and the size of the 4-bp deletion in WHT2780 (described by Sun et al.5) has been exaggerated to make it visible at this scale. The 1115/0 and A333 deletions are described by Krausz et al. “Transmitted” indicates a deletion that has been passed naturally from father to son on at least one occasion. OAT denotes oligoasthenoteratozoospermia.
See this image and copyright information in PMC

Comment on

References

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    1. Sun C, Skaletsky H, Birren B, et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet. 1999;23:429–32. - PubMed

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