scholarly journals Evaluation of i‐Motif Formation in the Serotonin Transporter‐Linked Polymorphic Region

ChemBioChem ◽  
2020 ◽  
Author(s):  
Bryony N. Thorne ◽  
Bart A. Ellenbroek ◽  
Darren J. Day
Keyword(s):  
Serotonin Transporter ◽  
Polymorphic Region

scholarly journals Identification and functional characterization of the extremely long allele of the serotonin transporter-linked polymorphic region

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Tempei Ikegame ◽  
Yosuke Hidaka ◽  
Yutaka Nakachi ◽  
Yui Murata ◽  
Risa Watanabe ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Psychiatric Disorders ◽  
Serotonin Transporter ◽  
Tandem Repeats ◽  
Large Population ◽  
Functional Characterization ◽  
Luciferase Assay ◽  
Elderly Subjects ◽  
Polymorphic Region ◽  
Rare Alleles

AbstractSLC6A4, which encodes the serotonin transporter, has a functional polymorphism called the serotonin transporter-linked polymorphic region (5-HTTLPR). The 5-HTTLPR consists of short (S) and long (L) alleles, each of which has 14 or 16 tandem repeats. In addition, the extralong (XL) and other rare alleles have been reported in 5-HTTLPR. Although they are more frequent in Asian and African than in other populations, the extent of variations and allele frequencies (AFs) were not addressed in a large population. Here, we report the AFs of the rare alleles in a large number of Japanese subjects (N = 2894) consisting of two cohorts. The first cohort (case-control study set, CCSS) consisted of 1366 subjects, including 485 controls and 881 patients with psychosis (bipolar disorder or schizophrenia). The second cohort (the Arao cohort study set, ACSS) consisted of 1528 elderly subjects. During genotyping, we identified 11 novel 5-HTTLPR alleles, including 3 XL alleles. One novel allele had the longest subunit ever reported, consisting of 28 tandem repeats. We named this XL28-A. An in vitro luciferase assay revealed that XL28-A has no transcriptional activity. XL28-A was found in two unrelated patients with bipolar disorder in the CCSS and one healthy subject in the ACSS who did not show depressive symptoms or a decline in cognitive function. Therefore, it is unlikely that XL28-A is associated with psychiatric disorders, despite its apparent functional deficit. Our results suggest that unraveling the complex genetic variations of 5-HTTLPR will be important for further understanding its role in psychiatric disorders.

Allelic Differences in the Serotonin Transporter-Linked Polymorphic Region in Geriatric Depression

2002 ◽  
Vol 10 (2) ◽  
pp. 185-191 ◽  
Author(s):  
David C. Steffens ◽  
Ingrid Svenson ◽  
Douglas A. Marchuk ◽  
Robert M. Levy ◽  
Judith C. Hays ◽  
...  
Keyword(s):  
Serotonin Transporter ◽  
Geriatric Depression ◽  
Polymorphic Region ◽  
Allelic Differences

Serotonin transporter-linked polymorphic region (5-HTTLPR) genotype is associated with cortisol responsivity to naloxone challenge

2012 ◽  
Vol 224 (2) ◽  
pp. 223-230 ◽  
Author(s):  
Mary Ann C. Stephens ◽  
Mary E. McCaul ◽  
Elise M. Weerts ◽  
Gary Wand
Keyword(s):  
Serotonin Transporter ◽  
Polymorphic Region

scholarly journals Mouse model of the human serotonin transporter-linked polymorphic region

2019 ◽  
Vol 30 (11-12) ◽  
pp. 319-328
Author(s):  
Lukasz Piszczek ◽  
Simone Memoli ◽  
Angelo Raggioli ◽  
José Viosca ◽  
Jeanette Rientjes ◽  
...  
Keyword(s):  
Mouse Model ◽  
Emotional Disorders ◽  
Serotonin Transporter ◽  
Single Copy ◽  
Weight Of Evidence ◽  
Polymorphic Region ◽  
Common Genetic Variants ◽  
Living Mouse ◽  
Technical Issues ◽  
The Impact

AbstractGenetic factors play a significant role in risk for mood and anxiety disorders. Polymorphisms in genes that regulate the brain monoamine systems, such as catabolic enzymes and transporters, are attractive candidates for being risk factors for emotional disorders given the weight of evidence implicating monoamines involvement in these conditions. Several common genetic variants have been identified in the human serotonin transporter (5-HTT) gene, including a repetitive sequence located in the promoter region of the locus called the serotonin transporter-linked polymorphic region (5-HTT-LPR). This polymorphism has been associated with a number of mental traits in both humans and primates, including depression, neuroticism, and harm avoidance. Some, but not all, studies found a link between the polymorphism and 5-HTT levels, leaving open the question of whether the polymorphism affects risk for mental traits via changes in 5-HTT expression. To investigate the impact of the polymorphism on gene expression, serotonin homeostasis, and behavioral traits, we set out to develop a mouse model of the human 5-HTT-LPR. Here we describe the creation and characterization of a set of mouse lines with single-copy human transgenes carrying the short and long 5-HTT-LPR variants. Although we were not able to detect differences in expression between the short and long variants, we encountered several technical issues concerning the design of our humanized mice that are likely to have influenced our findings. Our study serves as a cautionary note for future studies aimed at studying human transgene regulation in the context of the living mouse.

scholarly journals Serotonin transporter linked polymorphic region in anorexia nervosa and bulimia nervosa

2000 ◽  
Vol 5 (3) ◽  
pp. 233-234 ◽  
Author(s):  
D Di Bella ◽  
M Catalano ◽  
M C Cavallini ◽  
C Riboldi ◽  
L Bellodi
Keyword(s):  
Anorexia Nervosa ◽  
Bulimia Nervosa ◽  
Serotonin Transporter ◽  
Polymorphic Region
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