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In humans, the SRY gene is located on short (p) arm of the Y chromosome at position 11.2. 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). [5]
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [1]
If there is a Y chromosome present, testicular cords will develop via the Sry gene (on the Y chromosome): repressing the female sex cord genes and activating the male. [ 4 ] [ 5 ] If there is no Y chromosome present the opposite will occur, developing ovarian cords.
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 the sex-determining chromosome because the presence of the Y chromosome causes offspring produced in sexual reproduction to be of male sex.
Even so, the absence of the SRY gene or the silencing of the SOX9 gene are not enough to trigger sexual differentiation of a fetus in the female direction. A recent finding suggests that ovary development and maintenance is an active process, [22] regulated by the expression of a "pro-female" gene, FOXL2.
Hairy ears are an example of a gene once thought to be Y-linked in humans; however, that hypothesis was discredited. [5] Due to advancements in DNA sequencing, Y linkage is getting easier to determine and prove. The Y-chromosome has been entirely mapped, [7] revealing many Y-linked traits. [8]
The tip of the Y chromosome contains the SRY gene and, during recombination, a translocation occurs in which the SRY gene becomes part of the X chromosome. [15] [26] If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is ...
The SHOX gene in the PAR1 region is the gene most commonly associated with and well understood with regards to disorders in humans, [17] but all pseudoautosomal genes escape X-inactivation and are therefore candidates for having gene dosage effects in sex chromosome aneuploidy conditions (45,X, 47,XXX, 47,XXY, 47,XYY, etc.).