SRY in the context of Testis


SRY in the context of Testis

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⭐ Core Definition: SRY

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals (placentals and marsupials). SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

SRY is a member of the SOX (SRY-like box) gene family of DNA-binding proteins. When complexed with the steroidogenic factor 1 (SF-1) protein, SRY acts as a transcription factor that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later develop into seminiferous tubules. These cords form in the central part of the yet-undifferentiated gonad, turning it into a testis. The now-induced Leydig cells of the testis then start secreting testosterone, while the Sertoli cells produce anti-Müllerian hormone. Effects of the SRY gene, which normally take place 6–8 weeks after fetus formation, inhibit the growth of female anatomical structure in males. The gene also contributes towards developing the secondary sexual characteristics of males.

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SRY in the context of Man

A man is an adult male human. Before adulthood, a male child or adolescent is referred to as a boy.

Like most other male mammals, a man's genome usually inherits an X chromosome from the mother and a Y chromosome from the father. Sex differentiation of the male fetus is governed by the SRY gene on the Y chromosome. During puberty, hormones which stimulate androgen production result in the development of secondary sexual characteristics that result in even more differences between the sexes. These include greater muscle mass, greater height, the growth of facial hair and a lower body fat composition. Male anatomy is distinguished from female anatomy by the male reproductive system, which includes the testicles, sperm ducts, prostate gland and epididymides, and penis. Secondary sex characteristics include a narrower pelvis and hips, and smaller breasts and nipples.

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SRY in the context of Woman

A woman is an adult female human. Before adulthood, a female child or adolescent is referred to as a girl.

Typically, women inherit a pair of X chromosomes, one from each parent. Sex differentiation of the female fetus is governed by the lack of a present functioning SRY gene on either one of the respective sex chromosomes. Female anatomy is distinguished from male anatomy by the female reproductive system, which includes the ovaries, fallopian tubes, uterus, vagina, and vulva. A woman generally has a wider pelvis, broader hips, and larger breasts than a man. These characteristics can facilitate pregnancy, childbirth and breastfeeding. Women typically have less facial and other body hair, have a higher body fat composition, and are on average shorter and less muscular than men. Women are at greater risk of certain diseases like breast cancer, and at lower risk of other diseases like lung cancer.

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SRY in the context of Y chromosome

The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is used for sex-determining as the presence of the Y chromosome typically causes offspring produced in sexual reproduction to develop phenotypically male. In mammals, the Y chromosome contains the SRY gene, which usually triggers the differentiation of male gonads. The Y chromosome is typically only passed from male parents to male offspring.

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SRY in the context of XXYY syndrome

XXYY syndrome is a sex chromosome anomaly in which males have two extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome with a properly functioning SRY gene makes a male. Therefore, humans with XXYY are genotypically male. Males with XXYY syndrome have 48 chromosomes instead of the typical 46. This is why XXYY syndrome is sometimes written as 48, XXYY syndrome or 48, XXYY. It affects an estimated one in every 18,000–40,000 male births.

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SRY in the context of Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction.

It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. This unresponsiveness can impair or prevent the development of male genitals, as well as impairing or preventing the development of male secondary sexual characteristics at puberty. It does not significantly impair female genital or sexual development. The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males, (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals range from a typical male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome.

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