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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]
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
The cause of the condition lies in conception or utero with the aggregation of two distinct zygotes or blastocysts (one of which expresses 46,XX and the other of which expresses 46,XY) into a single embryo, [4] which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins.
The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes at Xp22.1–Xp22.3 and Yp 11.2 [5]. [3] The amelogenin gene's location on sex chromosomes has implications for variability both between the X chromosome form and the Y chromosome form (), and between alleles of AMELY among different populations.
Once the SRY gene is activated, cells create testosterone and anti-müllerian hormone which typically ensures the development of a single, male reproductive system. [9] In typical XX embryos, cells secrete estrogen, which drives the body toward the female pathway. In Y-centered sex determination, the SRY gene is the main gene in determining ...
Gene mapping or genome mapping describes the methods used to identify the location of a gene on a chromosome and the distances between genes. [2] [3] Gene mapping can also describe the distances between different sites within a gene. The essence of all genome mapping is to place a collection of molecular markers onto their respective positions ...
SOX genes (SRY-related HMG-box genes) encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box (for high mobility group). This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species.
Y-linked inheritance Pedigree tree showing the inheritance of a Y-linked trait. Y linkage, also known as holandric inheritance (from Ancient Greek ὅλος hólos, "whole" + ἀνδρός andrós, "male"), [1] describes traits that are produced by genes located on the Y chromosome.