Characterization of novel genes in AZF regions.

Abstract:

:The long arm of the Y chromosome contains genes mapped in loci involved in male infertility, short stature and gonadoblastoma. However, many of these genes have not been fully characterized, and are not currently investigated in patients affected by such diseases. We report a study aimed to the genomic characterization of 5 genes mapped within the Y chromosome: BPY2, PRY, TTY1, TTY2, and VCY. Exon-intron boundaries were detected for each gene, and PCR analysis was carried out to investigate the involvement of these genes in different re-arrangements of the Y chromosome. It was found that BPY2 and PRY are lost in some infertile patients with Yq microdeletions, suggesting that they could play a role in male gametogenesis. On the other hand, these patients retain some copies of TTYI and TTY2 genes, due to the presence of copies in Yp, and of VCY, which has homologous copies on the X chromosome. On the basis of their localization, these genes could be candidate for the gonadoblastoma locus (TTY1, TTY2) and for the control growth locus (VCY).

journal_name

J Endocrinol Invest

authors

Stuppia L,Gatta V,Fogh I,Gaspari AR,Grande R,Morizio E,Fantasia D,Pizzuti A,Calabrese G,Palka G

doi

10.1007/BF03343790

keywords:

subject

Has Abstract

pub_date

2000-11-01 00:00:00

pages

659-63

issue

10

eissn

0391-4097

issn

1720-8386

journal_volume

23

pub_type

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