Identified in a GWAS analysis of Chinese men with non-obstructive azoospermia (FBrf0227519), the human gene DMRT2 is proposed as a candidate gene for involvement in human male fertility. DMRT2 encodes a conserved transcription factor; it maps to a region of the human genome associated with gonadal dysgenesis and XY sex reversal (SRXY4, MIM:154230). There is a single high-scoring fly ortholog, dmrt11E, for which RNAi-targeting constructs have been generated.
The DMRT2 gene has not been introduced into flies.
In Drosophila, tissue-specific knockdown of dmrt11E using GAL4/UAS-RNAi results in reduced male fertility; functional dmrt11E is required in the somatic cells of the testis for normal fertility.
[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.
DMRT2 maps to chromosome 9p24.3, a region of the genome associated with gonadal dysgenesis and XY sex reversal (see MIM:154230). [from Gene Cards, DMRT2; 2016.04.07]
DMRT2 (Doublesex And Mab-3 Related Transcription Factor 2) -- the full name is its description! [from Gene Cards, DMRT2; 2016.04.07]
One to one: 1 human to 1 Drosophila; other members of this transcription factor family exist in both species.
Moderate-scoring ortholog of human DMRT2 (1 Drosophila to 1 human); other members of this transcription factor family exist in both species. Dmel\dmrt11E shares 30% identity and 40% similarity with human DMRT2.
