Presence of multiple functional polyadenylation signals and a single nucleotide polymorphism in the 3' untranslated region of the human serotonin transporter gene.
The human serotonin transporter (hSERT) gene is a candidate for involvement in the aetiology of affective disorders. In humans, multiple transcripts of the gene have been detected by northern blot analysis of brain and other tissues. We performed 3' rapid amplification of cDNA ends to identify the common sites of polyadenylation in hSERT mRNA from human JAR cells and whole blood. Two major polyadenylation sites were identified: one 567 bp downstream of the stop codon, consistent with the usage of the polyadenylation signal AATGAA, and a second site 690 bp downstream of the stop codon. The putative polyadenylation signal upstream of this site contained a single nucleotide polymorphism (AG/TTAAC). However, allelic variation at this site did not influence polyadenylation site usage, and there were no significant differences in the abundance of the two alleles of this polymorphism between 329 control subjects, 158 individuals with major depression, and 130 individuals with bipolar affective disorder. This single nucleotide polymorphism in the 3' untranslated region of the hSERT gene should provide a useful genetic marker in the evaluation of hSERT as a candidate gene influencing susceptibility to mood disorders.
Battersby
S
S
MRC Brain Metabolism Unit, Royal Edinburgh Hospital, UK.
Ogilvie
A D
AD
Blackwood
D H
DH
Shen
S
S
Muqit
M M
MM
Muir
W J
WJ
Teague
P
P
Goodwin
G M
GM
Harmar
A J
AJ
D020413:3' Untranslated Regions / Q000235:genetics*; D001483:Base Sequence; D015152:Blotting, Northern; D001923:Brain Chemistry / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D005786:Gene Expression Regulation; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D019964:Mood Disorders / Q000235:genetics; D009419:Nerve Tissue Proteins; D011061:Poly A / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000032:analysis; D012701:Serotonin / Q000235:genetics; D050486:Serotonin Plasma Membrane Transport Proteins
D020413:3' Untranslated Regions; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D011061:Poly A; D012701:Serotonin