Faculty Mentor

Dr. Elaine Vanterpool

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Description

The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Jordae Smith, Student Researcher

An Analysis of Androgen Receptor (AR) Variants in Breast Cancer

Included in

Biology Commons

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