scholarly journals Identification and functional characterization of three novel alleles for the serotonin transporter-linked polymorphic region

2011 ◽  
Vol 17 (2) ◽  
pp. 185-192 ◽  
Author(s):  
E A Ehli ◽  
Y Hu ◽  
T Lengyel-Nelson ◽  
J J Hudziak ◽  
G E Davies
Keyword(s):  
Serotonin Transporter ◽  
Functional Characterization ◽  
Polymorphic Region ◽  
Novel Alleles

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.

scholarly journals Functional Characterization of the Murine Serotonin Transporter Gene Promoter in Serotonergic Raphe Neurons

2002 ◽  
Vol 70 (3) ◽  
pp. 932-939 ◽  
Author(s):  
Armin Heils ◽  
Christine Wichems ◽  
Rainald Mössner ◽  
Susanne Petri ◽  
Katharina Glatz ◽  
...  
Keyword(s):  
Serotonin Transporter ◽  
Functional Characterization ◽  
Gene Promoter ◽  
Serotonin Transporter Gene ◽  
Transporter Gene ◽  
Raphe Neurons

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

2019 ◽  
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 ◽  
The Impact ◽  
The Brain

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 behavioural 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.

Functional characterization of human brown adipose tissue metabolism

2020 ◽  
Vol 477 (7) ◽  
pp. 1261-1286 ◽  
Author(s):  
Marie Anne Richard ◽  
Hannah Pallubinsky ◽  
Denis P. Blondin
Keyword(s):  
Adipose Tissue ◽  
Brown Adipose Tissue ◽  
Functional Characterization ◽  
Human Infants ◽  
Positron Emission ◽  
Brown Adipose ◽  
Treatment Of Obesity ◽  
And Function

Brown adipose tissue (BAT) has long been described according to its histological features as a multilocular, lipid-containing tissue, light brown in color, that is also responsive to the cold and found especially in hibernating mammals and human infants. Its presence in both hibernators and human infants, combined with its function as a heat-generating organ, raised many questions about its role in humans. Early characterizations of the tissue in humans focused on its progressive atrophy with age and its apparent importance for cold-exposed workers. However, the use of positron emission tomography (PET) with the glucose tracer [18F]fluorodeoxyglucose ([18F]FDG) made it possible to begin characterizing the possible function of BAT in adult humans, and whether it could play a role in the prevention or treatment of obesity and type 2 diabetes (T2D). This review focuses on the in vivo functional characterization of human BAT, the methodological approaches applied to examine these features and addresses critical gaps that remain in moving the field forward. Specifically, we describe the anatomical and biomolecular features of human BAT, the modalities and applications of non-invasive tools such as PET and magnetic resonance imaging coupled with spectroscopy (MRI/MRS) to study BAT morphology and function in vivo, and finally describe the functional characteristics of human BAT that have only been possible through the development and application of such tools.

Sign in / Sign up

Export Citation Format

Share Document