Molecular Evolution of PPHLN1 Gene in Relation to HERV-M Element
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Transcript of Molecular Evolution of PPHLN1 Gene in Relation to HERV-M Element
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Molecular Evolution of PPHLN1 Gene in Relation to HERV-M ElementJae-Won Huh1, Dae-Soo Kim2, Hong-Seok Ha1, Kung Ahn1, Yun-Ji Kim1, Ja-Rang Lee1, and Heui-Soo Kim1,2,*
1 Division of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Republic of Korea2 PBBRC, Interdisciplinary Research Program of Bioinformatics, College of Natural Sciences, Pusan National University, Busan 609-735, Republic of Korea
http://www.primate.or.kr
MOLECULAR BIOLOGY
& PHYLOGENY LAB
Abstract
HERV-M (the human endogenous retrovirus M), related to the super family of HERV-K, has a met
hionine (M) tRNA primer-binding site and is located within the periphilin gene on human chromos
ome 12q12. HERV-M has been integrated into the periphilin gene as the truncated form, 5’LTR-g
ag-pol-3’LTR. PCR (polymerase chain reaction) and RT-PCR (reverse transcription-polymerase c
hain reaction) approaches were conducted to investigate its evolutionary origins. Interestingly, the i
nsertion of various retroelements in a common ancestor genome may make different transcript vari
ants in different species. In the case of the periphiline gene, human (10 variants) and mouse (2 varia
nts) lineages show different transcript variants. Insertion of HERV-M (variant 1-3) could affect th
e protein coding region. Also Alusq/x (variant 4-9) and L1ME4a (mammalian-wide subfamilies of L
INE-1) (variant10) 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 divers
ification of the periphilin gene during mammalian evolution. The HERV-M derived transcripts (va
riant 1-3) were expressed in various human tissues, whereas it was not detected in crab-eating mon
key and squirrel monkey tissues by RT-PCR amplification. Taken together, HERV-M seems to hav
e been integrated into our common ancestor genome after the divergence of simians and prosimian
s, and then was actively expressed during hominoid evolution...………………………………………
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Introduction
Materials & Methods
Unidentified Gene
Whole Genome sequence (Golden Path, hg16)
RepeatMasker
Identification of retroelement related Gene
New finding of Hybrid Genes with HERVsConfirm with RT-PCR
Reference Sequence (Feb. 27 2004)
dbEST clustering with template(Apr. 01 2004)
Total RNA isolation
Human Tissues
Cancer cell lines
Adult Stem cells
Monkey Tissue
mRNA subtractio
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Results & DiscussionInsertion of Retroelements during the Evolution of PPHLN1 gene
The Structure of PPHLN1 Transcript variants
Evolution of HERV-M related alternative transcript
5 Expression profiling of HERV-M related alternative transcripts
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Results & DiscussionNovel Alternative Splicing of HERV-M related to PPHLN1
gene
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Genome Information Laboratory, Pusan National University, Republic of Korea
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