SG00000463

SpermatogenesisOnline 1.0

Tag

Content

SG ID

SG00000463

UniProt Accession

Theoretical PI

Molecular Weight

Genbank Nucleotide ID

Genbank Protein ID

Gene Name

Gene Synonyms/Alias

Protein Name

Protein Synonyms/Alias

Organism

NCBI Taxonomy ID

Chromosome Location

chr:-;---;-

View in Ensembl genome browser

Function in Stage

postmeiotic

meiotic

Function in Cell Type

spermatocyte

spermatid

Description

We conclude that unregulated PKA activity in male meiotic or postmeiotic germ cells leads to structural defects in mature sperm and results in reduced fertility in mice and humans, contributing to the strikingly reduced transmission of PRKAR1A inactivating mutations by male patients with CNC.

The information of related literatures

1. K. A. Burton, D. A. McDermott, D. Wilkes, M. N. Poulsen, M. A. Nolan, M. Goldstein, C. T. Basson and G. S. McKnight (2006) Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men. Mol Endocrinol 20(10): 2504-13.

Abstract
Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and cutaneous myxomas, and endocrine tumors. CNC is inherited as an autosomal dominant trait and is transmitted with greater frequency by women vs. men. Nearly two thirds of CNC patients are heterozygous for inactivating mutations in the gene encoding the protein kinase A (PKA) type I alpha regulatory subunit (RI alpha), PRKAR1. We report here that male mice heterozygous for the Prkar1a gene have severely reduced fertility. Sperm from Prkar1a heterozygous mice are morphologically abnormal and reduced in number. Genetic rescue experiments reveal that this phenotype results from elevated PKA catalytic activity in germ cells as early as the pachytene stage of spermatogenesis. Consistent with this defect in the male mutant mice, sperm from CNC patients heterozygous for PRKAR1A mutations were also found to be morphologically aberrant and decreased in number. We conclude that unregulated PKA activity in male meiotic or postmeiotic germ cells leads to structural defects in mature sperm and results in reduced fertility in mice and humans, contributing to the strikingly reduced transmission of PRKAR1A inactivating mutations by male patients with CNC. PMID: [16728532]

Figures for illustrating the function of this protein/gene

	Ref: K. A. Burton, D. A. McDermott, D. Wilkes, M. N. Poulsen, M. A. Nolan, M. Goldstein, C. T. Basson and G. S. McKnight (2006) Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men. Mol Endocrinol 20(10): 2504-13. PMID: [16728532]
	Ref: K. A. Burton, D. A. McDermott, D. Wilkes, M. N. Poulsen, M. A. Nolan, M. Goldstein, C. T. Basson and G. S. McKnight (2006) Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men. Mol Endocrinol 20(10): 2504-13. PMID: [16728532]