Characterization of novel genes in AZF regions

被引：6

作者：

Stuppia, L

Gatta, V

Fogh, I

Gaspari, AR

Grande, R

Morizio, E

Fantasia, D

Pizzuti, A

Calabrese, G

Palka, G ^{[1
]}

机构：

[1] Univ G DAnnunzio, Dipartimento Sci Biomed, Sez Genet Med, Chieti, Italy

[2] CNR, Ist Citomorfol Normale & Patol, Chieti, Italy

[3] Univ Milan, Osped Policlin, IRCCS, Ist Clin Neurol, Milan, Italy

[4] Osped Civile, Serv Genet Umana, Pescara, Italy

[5] IRCCS, CSS Mendel, Rome, Italy

来源：

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | 2000年 / 23卷 / 10期

关键词：

Y chromosome; male infertility; gene families;

D O I：

10.1007/BF03343790

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 TTY1 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). (C) 2000, Editrice Kurtis.

引用

页码：659 / 663

页数：5

共 20 条

[1] Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and manning to the Sxrb interval of the mouse Y chromosome of the Dffry gene [J].