Identified in a GWAS analysis of Chinese men with non-obstructive azoospermia (FBrf0227519), the human gene PTPRD is proposed as a candidate gene for involvement in human male fertility. PTPRD is a receptor-type protein tyrosine phosphatase signaling molecule. There is a single fly ortholog, Lar, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Dmel\Lar is orthologous to two additional human genes, PTPRF and PTPRS.
The PTPRD gene has not been introduced into flies.
Animals homozygous for amorphic alleles of Dmel\Lar are semi-lethal; larvae exhibit neural defects. Tissue-specific knockdown of Lar using GAL4/UAS-RNAi results in reduced male fertility; functional Lar is required in the germ cells for normal fertility. Physical and genetic interactions of Dmel\Lar have been characterized; see below and in the gene report for Lar.
[updated Apr. 2016 by FlyBase; FBrf0222196]
Non-obstructive azoospermia (NOA) is defined as absence of any measurable level of sperm in semen, resulting from a defect in the production of spermatozoa in the testes. [from MedGen, Non-obstructive azoospermia; MedGen UID: 866757]
Non-obstructive azoospermia (NOA), or failure of spermatogenesis within the testis, is diagnosed in approximately 10% of infertile men. NOA may be due to a lack of appropriate stimulation by gonadotropins, in which case hormonal therapy is usually effective. A larger category of non-obstructive azoospermia consists of men with an intrinsic testicular impairment. In these cases, the primary approach is to improve the quantity and quality of sperm retrieved from the testis for use for in vitro fertilization (Kumar, 2013; PMCID:PMC3583162).
Observation of non-obstructive azoospermia (NOA).
Locus identified in a genome-wide association study (GWAS) of non-obstructive azoospermia in Chinese men.
PTPRD (protein tyrosine phosphatase, receptor type D) contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains. It may play a role in promoting neurite growth and regulating neurons axon guidance. [from Gene Cards, PTPRD; 2016.04.07]
Many to one: 3 human to 1 Drosophila; additional high-scoring human orthologous genes are PTPRF and PTPRS.
Ortholog of human genes PTPRD, PTPRF and PTPRS. (1 Drosophila to 3 human). Dmel\Lar shares 46-48% identity and 61-63% similarity with the human genes.
