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

作者：Huh Jae Won; Kim Young Hyun; Kim Dae Soo; Park Sang Je; Lee Sang Rae; Kim Sang Hyun; Kim Ekyune; Kim Sun Uk; Kim Myeong Su; Kim Heui Soo; Chang Kyu Tae^*

来源：Molecules and Cells, 2010, 30(3): 201-207.

DOI：10.1007/s10059-010-0108-x

• alternative transcript
• AluJb
• exonization event
• leptin receptor
• transposable elements

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.

• 出版日期2010-9