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

Published online August 23, 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
Dec 31, 2023 Vol.46 No.12, pp. 727~777
COVER PICTURE
Lee et al. (pp. 757-763), show that disruption of ANKS1A promotes the entry of intraflagellar transport trains into cilia, increasing protein transport and forming extracellular vesicles (ECVs). This figure illustrates the abundance of ECVs along the cilia of primary ependymal cells derived from ANKS1A KO mice.

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