A novel allele in the promoter region of the human serotonin transporter gene

Mol Psychiatry. 1999 Jan;4(1):97-9. doi: 10.1038/sj.mp.4000449.

Abstract

The human serotonin transporter (hSERT) gene is a promising candidate for mediating the genetic susceptibility for various psychiatric conditions such as mood and obsessive-compulsive disorders. Two polymorphic sites in this gene attracted much interest: a VNTR of 17-bp repeats in intron two, and an insertion/deletion in the 5'-flanking promoter region (5-HTT gene-linked polymorphic region-5-HTTLPR) creating a short (S) and a long (L) allele. The 5-HTTLPR polymorphism is situated in a GC-rich region composed of 20-23 bp repeating units. The S and L alleles have 14 and 16 repeat-elements respectively. Positive associations of the 5-HTTLPR polymorphism with mood disorders, anxiety-related personality traits, autism and late-onset Alzheimer's disease have been published, although some non replications were also reported. Here we report a novel allele (termed LJ) in the 5-HTTLPR site. This allele is longer than the L allele by 43 bp, has 18 repeat units and contains two copies of the insertion/deletion sequence arranged in tandem. The LJ allele was found in individuals of Libyan and Tunisian Jewish origin but not in Moroccan or Ashkenazi Jews.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Composition
  • Base Sequence
  • Carrier Proteins / genetics*
  • Ethnicity / genetics
  • Europe / ethnology
  • Female
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Israel
  • Jews / genetics
  • Libya / ethnology
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins*
  • Mental Disorders / genetics
  • Molecular Sequence Data
  • Morocco / ethnology
  • Nerve Tissue Proteins*
  • Pedigree
  • Promoter Regions, Genetic*
  • Serotonin Plasma Membrane Transport Proteins
  • Tunisia / ethnology

Substances

  • Carrier Proteins
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins