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Molecular evolution of the periphilin gene in relation to human endogenous retrovirus m element

Jae-Won Huh1, Tae-Hyung Kim, Joo-Mi Yi

  • 1Division of Biological Sciences, College of Natural Sciences, Pusan National University, Pusan, Korea.

Journal of Molecular Evolution
|April 14, 2006
PubMed

Insights

Human endogenous retrovirus M (HERV-M) integrated into the periphilin gene influenced transcript diversity. HERV-M expression was detected in human tissues but not in monkeys, suggesting its activity during hominoid evolution.

Area of Science:

  • Genomics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • Human endogenous retroviruses (HERVs) are remnants of ancient retroviral infections integrated into the host genome.
  • HERV-M, a member of the HERV-K family, is located within the periphilin gene on chromosome 12q12.
  • Retroelement insertions can lead to diverse transcript variants across species.

Purpose of the Study:

  • To investigate the evolutionary origins and impact of HERV-M integration into the periphilin gene.
  • To understand the role of HERV-M and other repetitive elements in periphilin gene transcript diversification.
  • To determine the expression patterns of HERV-M-derived transcripts in different species and tissues.

Main Methods:

  • Polymerase chain reaction (PCR) and reverse transcription-PCR (RT-PCR) were employed.
  • Analysis of periphilin gene transcript variants in human and mouse lineages.
  • Detection of HERV-M derived transcripts in various primate tissues.

Main Results:

  • HERV-M integration resulted in truncated forms within the periphilin gene.
  • Humans exhibit 10 periphilin transcript variants, while mice have 2, indicating species-specific diversification.
  • HERV-M (variants 1-3), Alusq/x, and L1ME4a in humans, and SINE/RLTR15 in mice contribute to transcript variation.
  • HERV-M derived transcripts were expressed in human tissues but absent in crab-eating and squirrel monkeys.

Conclusions:

  • HERV-M integration likely occurred in an ancestor genome after the divergence of simians and prosimians.
  • HERV-M played a role in shaping periphilin gene transcripts during hominoid evolution.
  • Differential expression patterns suggest HERV-M's activity was specific to hominoid evolution.

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