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Mol. Cells 2010; 30(3): 201-207

Published online September 30, 2010

https://doi.org/10.1007/s10059-010-0108-x

© The Korean Society for Molecular and Cellular Biology

Alu-Derived Old World Monkeys Exonization Event and Experimental Validation of the LEPR Gene

Jae-Won Huh1,4, Young-Hyun Kim1,2,4, Dae-Soo Kim1,4, Sang-Je Park1,3, Sang-Rae Lee1, Sang-Hyun Kim1, Ekyune Kim1, Sun-Uk Kim1, Myeong-Su Kim1, Heui-Soo Kim3, and Kyu-Tae Chang1,*

1National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Ochang 363-883, Korea, 2Functional Genomics, University of Science and Technology, Daejeon 305-333, Korea, 3Division of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Korea, 4These authors contributed equally to this work.

Correspondence to : *Correspondence: changkt@kribb.re.kr

Received: January 19, 2010; Revised: May 20, 2010; Accepted: May 27, 2010

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 conduc-ted analyses using a number of primate genomic DNAs and adipose RNAs of tissue and primary cells de-rived from the crab-eating monkey. Our results demonstrate that the AluJb element has been integrated into our common an-cestor 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 posi-tion of G to A) and the insertion of one nucleotide se-quence (minus fourth position of A). Our data suggests that lineage-specific exonization events should be deter-mined by the combination event of the formation of splic-ing sites and protection against site-specific mutation pressures. These evolutionary mechanisms could be major sources for primate diversification.

Keywords alternative transcript, AluJb, exonization event, leptin receptor, transposable elements

Article

Research Article

Mol. Cells 2010; 30(3): 201-207

Published online September 30, 2010 https://doi.org/10.1007/s10059-010-0108-x

Copyright © The Korean Society for Molecular and Cellular Biology.

Alu-Derived Old World Monkeys Exonization Event and Experimental Validation of the LEPR Gene

Jae-Won Huh1,4, Young-Hyun Kim1,2,4, Dae-Soo Kim1,4, Sang-Je Park1,3, Sang-Rae Lee1, Sang-Hyun Kim1, Ekyune Kim1, Sun-Uk Kim1, Myeong-Su Kim1, Heui-Soo Kim3, and Kyu-Tae Chang1,*

1National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Ochang 363-883, Korea, 2Functional Genomics, University of Science and Technology, Daejeon 305-333, Korea, 3Division of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Korea, 4These authors contributed equally to this work.

Correspondence to:*Correspondence: changkt@kribb.re.kr

Received: January 19, 2010; Revised: May 20, 2010; Accepted: May 27, 2010

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 conduc-ted analyses using a number of primate genomic DNAs and adipose RNAs of tissue and primary cells de-rived from the crab-eating monkey. Our results demonstrate that the AluJb element has been integrated into our common an-cestor 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 posi-tion of G to A) and the insertion of one nucleotide se-quence (minus fourth position of A). Our data suggests that lineage-specific exonization events should be deter-mined by the combination event of the formation of splic-ing sites and protection against site-specific mutation pressures. These evolutionary mechanisms could be major sources for primate diversification.

Keywords: alternative transcript, AluJb, exonization event, leptin receptor, transposable elements

Mol. Cells
Nov 30, 2022 Vol.45 No.11, pp. 763~867
COVER PICTURE
Naive (cyan) and axotomized (magenta) retinal ganglion cell axons in Xenopus tropicalis (Choi et al., pp. 846-854).

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