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KMID : 0578320100300030201
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Molecules and Cells
2010 Volume.30 No. 3 p.201 ~ p.207
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Alu-Derived Old World Monkeys Exonization Event and Experimental Validation of the LEPR Gene
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Huh Jae-Won
Kim Young-Hyun
Kim Dae-Soo
Park Sang-Je
Lee Sang-Rae
Kim Sang-Hyun
Kim Ek-Yune
Kim Sun-Uk
Kim Myeong-Su
Kim Heui-Soo
Chang Kyu-Tae
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Abstract
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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.
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KEYWORD
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alternative transcript, AluJb, exonization event, leptin receptor, transposable elements
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