AMELY
AMELY
AMELY is a gene located on the Y chromosome in humans. It is part of the amelogenin gene family, which plays a crucial role in the development of tooth enamel. The AMELY gene is specifically expressed in males, as it is located on the Y chromosome, whereas its counterpart, AMELX, is located on the X chromosome and is expressed in both males and females.
Function
The AMELY gene encodes the amelogenin protein, which is a major component of the extracellular matrix of developing tooth enamel. Amelogenin is involved in the regulation of enamel mineralization and the formation of enamel prisms, which are the basic structural units of enamel. The protein is secreted by ameloblasts, which are cells responsible for enamel formation during tooth development.
Genetic Location
AMELY is located on the short arm of the Y chromosome, specifically at the Yp11.2 region. This location is significant because it allows for the differentiation of male and female DNA in forensic analysis and sex determination tests. The presence of AMELY can be used as a marker for the Y chromosome in various genetic studies.
Clinical Significance
Mutations or deletions in the AMELY gene can lead to defects in enamel formation, although such cases are rare compared to mutations in the AMELX gene. The study of AMELY is important in understanding sex-linked genetic disorders and in forensic science for sex determination.
Forensic Applications
In forensic science, the presence of the AMELY gene is used in sex determination tests. Since AMELY is located on the Y chromosome, its presence indicates male DNA. This is particularly useful in analyzing DNA samples from crime scenes, where determining the sex of an individual can be crucial.
Research and Studies
Research on AMELY and its role in enamel formation continues to provide insights into dental health and genetic disorders. Studies have shown that while AMELY and AMELX share similar functions, they may have distinct roles in enamel biomineralization.
Also see
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Contributors: Prab R. Tumpati, MD