Molecules and Cells

, Volume 30, Issue 3, pp 201–207

Alu-derived old world monkeys exonization event and experimental validation of the LEPR gene

  • Jae-Won Huh
  • Young-Hyun Kim
  • Dae-Soo Kim
  • Sang-Je Park
  • Sang-Rae Lee
  • Sang-Hyun Kim
  • Ekyune Kim
  • Sun-Uk Kim
  • Myeong-Su Kim
  • Heui-Soo Kim
  • Kyu-Tae Chang
Article

DOI: 10.1007/s10059-010-0108-x

Cite this article as:
Huh, JW., Kim, YH., Kim, DS. et al. Mol Cells (2010) 30: 201. doi:10.1007/s10059-010-0108-x

Abstract

The leptin receptor (LEPR) is a crucial regulatory protein that interacts with Leptin. In our analysis of LEPR, novel AluJb-derived alternative transcripts were identified in the genome of the rhesus monkey. In order to investigate the occurrence of AluJb-derived alternative transcripts and the mechanism underlying exonization events, we conducted analyses using a number of primate genomic DNAs and adipose RNAs of tissue and primary cells derived from the crab-eating monkey. Our results demonstrate that the AluJb element has been integrated into our common ancestor genome prior to the divergence of simians and prosimians. The lineage-specific exonization event of the LEPR gene in chimpanzees, orangutans, and Old World monkeys appear to have been accomplished via transition mutations of the 5′ splicing site (second position of C to T). However, in New World monkeys and prosimians, the AluJb-related LEPR transcript should be silenced by the additional transversion mutation (fourth position of T to G). The AluJb-related transcript of human LEPR should also be silenced by a mutation of the 5′ splicing site (first position of G to A) and the insertion of one nucleotide sequence (minus fourth position of A). Our data suggests that lineage-specific exonization events should be determined by the combination event of the formation of splicing sites and protection against site-specific mutation pressures. These evolutionary mechanisms could be major sources for primate diversification.

Keywords

alternative transcriptAluJbexonization eventleptin receptortransposable elements

Copyright information

© The Korean Society for Molecular and Cellular Biology and Springer Netherlands 2010

Authors and Affiliations

  • Jae-Won Huh
    • 1
  • Young-Hyun Kim
    • 1
    • 2
  • Dae-Soo Kim
    • 1
  • Sang-Je Park
    • 1
    • 3
  • Sang-Rae Lee
    • 1
  • Sang-Hyun Kim
    • 1
  • Ekyune Kim
    • 1
  • Sun-Uk Kim
    • 1
  • Myeong-Su Kim
    • 1
  • Heui-Soo Kim
    • 3
  • Kyu-Tae Chang
    • 1
  1. 1.National Primate Research CenterKorea Research Institute of Bioscience and BiotechnologyOchangKorea
  2. 2.Functional GenomicsUniversity of Science and TechnologyDaejeonKorea
  3. 3.Division of Biological Sciences, College of Natural SciencesPusan National UniversityBusanKorea