Molecular evolution of the periphilin gene in relation to human endogenous retrovirus m element.
HERV-M (human endogenous retrovirus M), related to the super family of HERV-K, has a methionine (M) tRNA primer-binding site, and is located within the periphilin gene on human chromosome 12q12. HERV-M has been integrated into the periphilin gene as the truncated form, 5'LTR-gag-pol-3'LTR. Polymerase chain reaction (PCR) and reverse transcription-polymerase chain reaction (RT-PCR) approaches were conducted to investigate its evolutionary origins. Interestingly, the insertion of retroelements in a common ancestor genome can make different transcript variants in different species. In the case of the periphilin gene, human (10 variants) and mouse (2 variants) lineages show different transcript variants. Insertion of HERV-M (variant 1-3) could affect the protein-coding region. Also, Alusq/x (variant 4-9) and L1ME4a (mammalian-wide subfamilies of LINE-1) (variant 10) in humans and SINE (short interspersed repetitive element) and RLTR15 (the mouse putative long terminal repeat) (variant 2) in mice could be driving forces in transcript diversification of the periphilin gene during mammalian evolution. The HERV-M derived transcripts (variant 1-3) were expressed in different human tissues, whereas they were not detected in crab-eating monkey and squirrel monkey tissues by RT-PCR amplification. Taken together, HERV-M seems to have been integrated into our common ancestor genome after the divergence of simians and prosimians, and then was actively expressed during hominoid evolution.
Huh
Jae-Won
JW
Division of Biological Sciences, College of Natural Sciences, Pusan National University, Pusan, Korea.
Kim
Tae-Hyung
TH
Yi
Joo-Mi
JM
Park
Eun-Sil
ES
Kim
Woo-Yeon
WY
Sin
Ho-Su
HS
Kim
Dae-Soo
DS
Min
Do-Sik
DS
Kim
Sang-Soo
SS
Kim
Chang-Bae
CB
Hyun
Byung-Hwa
BH
Kang
Soo-Kyung
SK
Jung
Jin-Sup
JS
Lee
Won-Ho
WH
Takenaka
Osamu
O
Kim
Heui-Soo
HS
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D000951:Antigens, Neoplasm / Q000235:genetics* / Q000378:metabolism; D019295:Computational Biology; D020077:Endogenous Retroviruses / Q000235:genetics*; D019143:Evolution, Molecular; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D011323:Primates / Q000235:genetics; D016415:Sequence Alignment
D000951:Antigens, Neoplasm; D009687:Nuclear Proteins; C478775:PPHLN1 protein, human