SRY : sex determining region Y

Description

The SRY (sex determining region Y) is a protein-coding gene located on chromosome Y.

The SRY gene provides instructions for making a protein called the sex-determining region Y protein. This protein is involved in male-typical sex development, which usually follows a certain pattern based on an individual's chromosomes. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype).The SRY gene is found on the Y chromosome. The sex-determining region Y protein produced from this gene acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein starts processes that cause a fetus to develop male gonads (testes) and prevent the development of female reproductive structures (uterus and fallopian tubes).

Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (PubMed:16996051, PubMed:16414182). Involved in different aspects of gene regulation including promoter activation or repression (PubMed:9525897). Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (PubMed:1425584, PubMed:8265659, PubMed:8159753, PubMed:11563911, PubMed:15170344). SRY HMG box recognizes DNA by partial intercalation in the minor groove and promotes DNA bending (PubMed:1425584, PubMed:8265659, PubMed:8159753, PubMed:11563911, PubMed:15170344, PubMed:16762365). Also involved in pre-mRNA splicing (PubMed:11818535). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). {ECO:0000250|UniProtKB:P36394, ECO:0000269|PubMed:11563911, ECO:0000269|PubMed:11818535, ECO:0000269|PubMed:1425584, ECO:0000269|PubMed:15170344, ECO:0000269|PubMed:16762365, ECO:0000269|PubMed:8159753, ECO:0000269|PubMed:8265659, ECO:0000269|PubMed:9525897, ECO:0000303|PubMed:16414182, ECO:0000303|PubMed:16996051}

SRY is also known as SRXX1, SRXY1, TDF, TDY.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing