Researchers characterize protein mutation that alters male development pre-birth.

A protein mutation leading to pre-birth developmental abnormalities in the male gender has been identified by the research group Case Western Reserve. The malfunctioning protein effects range from minimal life challenges to the development cancer. The protein of mention is located on the SRY, sex-determining region of the Y chromosome, of which controls the typical male maturation process under healthy conditions. When mutation occurs the protein lacks the ability to fold correctly, effecting its capability to code for the development of gonadal tissues. The SRY protein in located on part of the chromosome known as the "aromatic buttress" which acts as a support for DNA when proper folding upon itself occurs.

The SRY protein component belongs to the family of regulatory proteins that are key in the development of major tissues including stem cell to brain and major organ development.

Mutations within the SRY aromatic buttress cause what may be visualized as minute holes at strategic locations that prevent the proper folding, resulting in collapse. The mutations occur during the fetal stages of life and in most cases cause a XY sex reversal, leading to newborns with a female physical appearance. In some cases the mutation is not discovered until later in life when the individual does not hit puberty. Future research wishes to connect the dots between the SRY protein and its link to the stem-cell proteins.



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Labels : Sex Determination , Sex Chromosomes , SRY