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Molecular Human Reproduction, Vol. 9, No. 9, 509-516, September 2003
© 2003 European Society of Human Reproduction and Embryology

Article

Molecular basis of the TaqI p49a,f polymorphism in the DYS1 locus containing DAZ genes

Submitted on February 6, 2003; accepted on May 19, 2003

F. Jovelin, S. Berthaud and G. Lucotte1

Centre de Neurogénétique Moléculaire, 44 rue Monge, 75005 Paris, France

1 To whom correspondence should be addressed. e-mail: Lucotte{at}hotmail.com

The previously described TaqI p49a,f polymorphism at the DYS1 locus in the non-recombinant part of the Y chromosome is widely exploited to investigate many facets of human population genetics. It has been shown that the DYS1 locus corresponds to the four DAZ genes in the AZF-c region of the Y chromosome. As the DNA sequence of the DAZ genes is known in its entirety, it is now possible to establish correspondences between the main Southern polymorphic TaqI bands (A, C, D, F and I) at the DYS1 locus and TaqI fragments deduced from the sequence, by way of comparing band sizes and sequence homologies between hybridized fragments. Transitions between polymorphic forms for each variable TaqI fragment can be explained regarding the restriction maps, by postulating a parsimonious number of TaqI site losses during human evolution. Most of the codon changes caused by TaqI site losses located in the exons of the four DAZ genes have potentially high selective values.

Key words: AZF-c DAZ genes/DYS1/mutations by TaqI site loss/p49a,f TaqI polymorphism/selection


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P. H. Vogt
AZF deletions and Y chromosomal haplogroups: history and update based on sequence
Hum. Reprod. Update, July 1, 2005; 11(4): 319 - 336.
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