Interstitial Deletions and Male Infertility

Interstitial deletions in male-specific regions on chromosome Yq are a major source of infertility (AZF) (32,33) (Table 1). Of the commonly affected regions (AZFa, AZFb and AZFc), AZFb and AZFc are located within an approx 8-Mb interval and are mostly comprised of five large IR (P1-P5), each consisting of a complex array of direct and inverted blocks harboring male-specific genes. Large (>90 kb) regions of near-perfect identity exist among these IRs; nevertheless, the breakpoints strongly cluster toward the IR spacers (i.e., the regions that separate the two inverted repeat sequences) where, in some cases, they took place between sequences that shared no homology. These features are consistent with a cruciform-mediated mechanism for the deletions (21,33).

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