A functional polymorphism in the monoamine oxidase A gene promoter
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TLDR
A new polymorphism upstream of the gene for monoamine oxidase A, which consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies, may be useful as both a functional and an anonymous genetic marker for MAOA.Abstract:
We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in linkage disequilibrium with other MAOA and MAOB gene markers and displays significant variations in allele frequencies across ethnic groups. The polymorphism has been shown to affect the transcriptional activity of the MAOA gene promoter by gene fusion and transfection experiments involving three different cell types. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2–10 times more efficiently than those with 3 or 5 copies of the repeat, suggesting an optimal length for the regulatory region. This promoter region polymorphism may be useful as both a functional and an anonymous genetic marker for MAOA.read more
Citations
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References
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Book ChapterDOI
Identification of human monoamine oxidase (MAO) A and B gene promoters
TL;DR: The promoter of human monoamine oxidase (MAO) A and B genes have been identified and the different organization of the MAO A and A promoters may underlie their different cell and tissue specific expression.
Book ChapterDOI
Expression of human monoamine oxidase (MAO) A gene controlled by transcription factor Sp1.
TL;DR: This chapter discusses the expression of the human monoamine oxidase (MAO) A gene controlled by transcription factor Sp1, and finds that only the four Spl binding sites are protected suggesting that these four sites are the major DNA sequences interacting with transcription factors.