Journal of Neural Transmission

, Volume 104, Issue 11–12, pp 1259–1266

The 5-HT transporter gene-linked polymorphic region (5-HTTLPR) in evolutionary perspective: Alternative biallelic variation in rhesus monkeys

  • K. P. Lesch
  • J. Meyer
  • K. Glatz
  • G. Flügge
  • A. Hinney
  • J. Hebebrand
  • S. M. Klauck
  • A. Poustka
  • F. Poustka
  • D. Bengel
  • R. Mössner
  • P. Riederer
  • A. Heils
Rapid Communication Basic Neurosciences and Genetics

DOI: 10.1007/BF01294726

Cite this article as:
Lesch, K.P., Meyer, J., Glatz, K. et al. J. Neural Transmission (1997) 104: 1259. doi:10.1007/BF01294726

Summary

By conferring allele-specific transcriptional activity on the 5-HT transporter gene promoter in humans, the 5-HT transporter gene-linked polymorphic region (5-HTTLPR) influences a constellation of personality traits related to anxiety and increases the risk for neurodevelopmental, neurodegenerative, and psychiatric disorders. Here we have analyzed the presence and variability of the 5-HTTLPR in several species of primates including humans, and other mammals. PCR, Southern blot, and sequence analyses of the 5-HT transporter gene's 5′-flanking region in different mammalian species confirmed the presence of the 5-HTTLPR in platyrrhini and catarrhini (hominoids, cercopithecoids) but not in prosimian primates and other mammals. Since the 5-HTTLPR is unique to humans and simian primates, a progenitor 5-HTTLPR sequence may have been introduced into the genome some 40 Mio. years ago. In humans the majority of alleles are composed of either 14 or 16 repeat elements, while alleles with 18 or 20 repeat elements are rare. In contrast, great apes including orang-utan, gorilla, and chimpanzee display a high prevalence of alleles with 18 and 20 repeat elements. In hominoids all alleles originate from variation at a single locus (polymorphic locus 1). In the 5-HTTLPR of rhesus monkeys (rh5-HTTLPR) we found an alternative locus for length variation (polymorphic locus 2) generated by a 21 bp insertion/deletion event. The existence of a distinct biallelic variation of the 5-HTTLPR in rhesus monkeys but similar allele and genotype frequencies in this species and humans supports the notion that there may be a relationship between functional 5-HT transporter expression, anxiety-related traits, and the complexity of socialization in human and nonhuman primate populations.

Keywords

Serotonin transporter gene-linked polymorphic region allelic variation primates macaca mulatta evolution 

Copyright information

© Springer-Verlag 1997

Authors and Affiliations

  • K. P. Lesch
    • 1
  • J. Meyer
    • 1
  • K. Glatz
    • 1
  • G. Flügge
    • 2
  • A. Hinney
    • 3
  • J. Hebebrand
    • 3
  • S. M. Klauck
    • 4
  • A. Poustka
    • 4
  • F. Poustka
    • 5
  • D. Bengel
    • 1
  • R. Mössner
    • 1
  • P. Riederer
    • 1
  • A. Heils
    • 1
  1. 1.Department of PsychiatryUniversity of WürzburgWürzburg
  2. 2.German Primate CenterGöttingen
  3. 3.Department of Child and Adolescent PsychiatryUniversity of MarburgMarburg
  4. 4.German Cancer Research CenterMolecular Genome AnalysisHeidelberg
  5. 5.Department of Child and Adolescent PsychiatryUniversity of FrankfurtFrankfurtFederal Republic of Germany

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