'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 (placental mammals 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 (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. SRY gene effects normally take place 6–8 weeks after fetus formation which inhibits the female anatomical structural growth in males. It also works towards developing the secondary sexual characteristics of males.
SRY may have arisen from a gene duplication of the X chromosome bound gene SOX3, a member of the SOX family. This duplication occurred after the split between monotremes and therians. Monotremes lack SRY and some of their sex chromosomes share homology with bird sex chromosomes. SRY is a quickly evolving gene, and its regulation has been difficult to study because sex determination is not a highly conserved phenomenon within the animal kingdom. Even within marsupials and placentals, which use SRY in their sex determination process, the action of SRY differs between species. The gene sequence also changes; while the core of the gene, the high-mobility group (HMG) box, is conserved between species, other regions of the gene are not.
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Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in humans. It is atypical development of gonads in an embryo,. One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female has a single X chromosome, compared to the two sex chromosomes (XX or XY) in most people. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods or breasts without hormone treatment and are unable to have children without reproductive technology.
The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. The other sex chromosome is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or absence of Y that determines the male or female sex of offspring produced in sexual reproduction. In mammals, the Y chromosome contains the gene SRY, which triggers male development. The DNA in the human Y chromosome is composed of about 62 million base pairs, making it similar in size to chromosome 19.
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OXFORD UNIV PRESS2019
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