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PMID: 15241014 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology ·Vol. 12 ·No. 4 ·2004-00-00 ·Pages 345-56

Delbridge ML, Longepied G, Depetris D, Mattei MG, Disteche CM, Marshall Graves JA, Mitchell MJ

Abstract

TSPY, a candidate gene for a factor that promotes gonadoblastoma formation (GBY), is a testis-specific multicopy gene family in the male-specific region of the human Y (MSY) chromosome. Although it was originally proposed that male-specific genes on the Y originated from a transposed copy of an autosomal gene (Lahn & Page 1999b), at least two male-specific genes (RBMY and SRY) descended from a formerly recombining X-Y identical gene pair. Here we show that a TSPY homologue with similar gene structure lies in conserved positions, close to SMCX, on the X chromosome in human (TSPX ) and mouse (Tspx). TSPX is widely expressed and subject to X inactivation. TSPX and TSPY therefore evolved from an identical gene pair on the original mammalian sex chromosomes. This supports the hypothesis that even male-specific genes on the Y chromosome may have their origin in ubiquitously expressed genes on the X. It also strengthens the case for TSPY as a candidate for GBY, since independent functional studies link TSPX to cell cycle regulation.

MeSH Terms
Amino Acid Sequence Animals Biomarkers, Tumor/genetics Cell Cycle/genetics Cell Cycle Proteins Chromosomes, Human, X/genetics Chromosomes, Human, Y/genetics DNA-Binding Proteins/genetics Female Gonadoblastoma/genetics Humans Male Mice Molecular Sequence Data Neoplasm Proteins/genetics Nuclear Proteins/genetics Sequence Alignment Sex-Determining Region Y Protein Transcription Factors/genetics
Chemicals
Biomarkers, Tumor Cell Cycle Proteins DNA-Binding Proteins Neoplasm Proteins Nuclear Proteins SRY protein, human Sex-Determining Region Y Protein Sry protein, mouse TSPY1 protein, human Transcription Factors
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Delbridge Margaret L
INSERM U.491 Faculté de Médecine, 27 bd Jean Moulin, 13385 Marseille Cedex 05, France. [email protected]
Longepied Guy
Depetris Danielle
Mattei Marie-Genevieve
Disteche Christine M
Marshall Graves Jennifer A
Mitchell Michael J
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Article Info
Journal
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
Abbr.
Chromosome Res
ISSN
0967-3849
DOI
10.1023/B:CHRO.0000034134.91243.1c
Email
[email protected]
Published
2004-00-00
Pages
345-56
Language
English
Region
Netherlands
NLM ID
9313452
Subset
IM
External Links
PubMed source DOI: 10.1023/B:CHRO.0000034134.91243.1c View journal details
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