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A functional polymorphism in the monoamine oxidase A gene promoter

Sue Z. Sabol, +2 more
- 01 Sep 1998 - 
- Vol. 103, Iss: 3, pp 273-279
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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.

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Citations
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Journal ArticleDOI

The MAOA, COMT, MTHFR and ESR1 gene polymorphisms are associated with the risk of depression in menopausal women.

TL;DR: This study substantiates the involvement of the MAOA and MTHFR polymorphisms in climacteric depression and offers evidence that the COMT and ESR1 genes may also play a role in the susceptibility to depressive mood in postmenopausal women.
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Pharmacogenetics of selective serotonin reuptake inhibitor response: a 6-month follow-up.

TL;DR: Some subjects showing remission after acute treatment relapsed within 6 months, despite undertaking a maintenance treatment; the causes could be heterogeneous, but CLOCK gene variants may influence the outcome.
Journal ArticleDOI

A functional polymorphism in the promoter of monoamine oxidase A gene and bipolar affective disorder.

TL;DR: It is found that none of the different repeat copies was preferentially transmitted from mothers to their children affected with bipolar disorder and a non-significant trend for patients with an ultra-rapid cycling form of illness to have a higher frequency of low-activity alleles is found.
Journal ArticleDOI

Association of MAOA and COMT gene polymorphisms with palatable food intake in children

TL;DR: This study provides the first indication that genetic variants of enzymes that control DA availability might be involved in determination of the amount of palatable food intake in children.
Journal Article

Pharmacogenetics of antidepressive drugs: a way towards personalized treatment of major depressive disorder.

TL;DR: Genetic polymorphisms that may be involved in the therapeutic effects and side effects of antidepressive medications and which, in the future, may guide customized selection of the pharmacotherapeutic regimen in case of each patient are reviewed.
References
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Journal ArticleDOI

Association of Anxiety-Related Traits with a Polymorphism in the Serotonin Transporter Gene Regulatory Region

TL;DR: The short variant of the polymorphism reduces the transcriptional efficiency of the 5-HTT gene promoter, resulting in decreased 5HTT expression and 5HT uptake in lymphoblasts as discussed by the authors, which is the site of action of widely used uptake-inhibiting antidepressant and antianxiety drugs.
Journal ArticleDOI

Strategies for multilocus linkage analysis in humans.

TL;DR: The results show that considerable economy and efficiency can be brought to the mapping endeavor by resorting to appropriate strategies of detecting linkage and by constructing the human genetic map on a common reference panel of families.
Journal ArticleDOI

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

TL;DR: Analytical results indicate that isolated complete MAOA deficiency in this family is associated with a recognizable behavioral phenotype that includes disturbed regulation of impulsive aggression.
Journal ArticleDOI

Population and familial association between the D4 dopamine receptor gene and measures of Novelty Seeking

TL;DR: The relationship between DADR exon III sequence variants and personality test scores in a population of 315 mostly male siblings, other family members and individuals from the United States was investigated and the association between long alleles ofExon III and personality traits related to Novelty Seeking was confirmed.
Journal ArticleDOI

Aggressive Behavior and Altered Amounts of Brain Serotonin and Norepinephrine in Mice Lacking MAOA

TL;DR: Pup behavioral alterations, including trembling, difficulty in righting, and fearfulness were reversed by the serotonin synthesis inhibitor parachlorophenylalanine, and adults manifested a distinct behavioral syndrome, including enhanced aggression in males.
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