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Cytogenet Genome Res. 2002;99(1-4):146-50.

The Azoospermia region AZFa: an evolutionar y view.

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  • 1Institute of Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany.


Compared to other regions on the human Y chromosome, the genomic segment encompassing the functionally defined AZFa locus has undergone higher X-Y sequence divergence, which is detectable by fluorescence in-situ hybridisation. This allows an evolutionary definition of an interval enclosing AZFa with a size of about 1.1 Mb. The region includes the genes USP9Y, DBY and UTY and is limited by evolutionary breakpoints within the PAC clones 41L06 and 46M11. These breakpoints restrict an area of possible male specific evolution that may have resulted in the acquisition of male specific functions, including a role in spermatogenesis.

Copyright 2002 S. Karger AG, Basel

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