LIPH gene (Lipase member H) located on hu man 3q27 is reported to be related to hai r growth and loss by deletion mechanism o f fourth exon. The deletion mechanism is occurred by the homologous recombination and excision event of similar Alu element s of AluSc and AluY. In this report, we i nvestigated the evolutionary mechanism an d conservation of exon 4 sequences of LIP H gene. PCR amplification indicated that AluY element have been integrated into ou r common ancestor genome after the diverg ence of Old World monkeys and Hominoid pr imate. Sequencing analysis of various pri mates DNA samples (5 hominoids, 6 Old Wor ld monkeys, and 4 New World monkeys) of e xon 4 region shows one non-synonymous sub stitution, indicating that the region is important portion for the functional prot ein. The substitution event from Iso to T hr has been occurred in hominoid lineage. ………………………………….………… Evolutionary relationship of LIPH gene and Alu element Jin-Han Bae 1 , Sang-Je Park 1 , Jae-Won Huh 1 , Dae-Soo Kim 2 , and Heui-Soo Kim 1, 2 1 Division of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Republ ic of Korea 2 PBBRC, Interdisciplinary Research Program of Bioinformatics, College of Natural Sciences, Pusan National Universi ty, Busan 609-735, Republic of Korea http:// www.primate.or.kr Abstract RNA intermediate - LTR element + LTR element - env + env - RT + RT Yeast Ty1/copia/truncated HERVs LTR ORF1 ORF2 LTR LTR LTR Human THE1 ORF1 ORF2 P Poly(A) L1 gag pol env LTR LTR Full-length HERVs/exogenous retrovirus Retroelement Retroposon Retrotrnasposon Retrovirus LINE P Poly(A) Human Alu SINE Other region 16% LINE 20% Coding sequence 3% Pseudogene 1% HERV element 8% DNA element 3% Gene-related Sequence 36% SINE 13% Introduction Materials & Methods Results & Discussion 7SL-derived left monomer A-rich connector 7SL-derived right monomer poly(A) TSD TSD B box A box X 35 Denatur e Anneal Extension Template DNA 94℃ Primer DNA polymerase 50℃ 72℃ PCR Gene Cloning & Sequencing Bioinforma tics References HU M CH GO G I JM RM 641 b p L I P H (lipase, member H) 3q27 MIR CDS AluY UTR Chr.3 … Exon 1 23 4 5 6 7 8 9 1 0 S AS AluS c Insertion of AluY Sequence analysis of Exon4 in LIPH Amino acids of Exon4 in LIPH HU GO BO GI OR CR CA JM SQ RH TA NM MAN LAN COL 0.000 0.005 0.010 0.015 0.020 0.025 I II Phylogenic analysis of Exon4 in LIPH Sequence analysis of Exon4 in various species 1.Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova A V, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev E I. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science. 2006 Nov 10;314(5801):982- 5. 2. Ali G, Chishti MS, Raza SI, John P, Ahmad W. A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet. 2007 May;121(3-4):319-25. Epub 2007 Feb 27. 3. Mills RE, Bennett EA, Iskow RC, Devine SE. Which transposable e lements are active in the human genome? Trends Genet. 2007 Apr;23 (4):183-91. Epub 2007 Feb 27. Review. Hu Frog Ch Canis Mus Gallus Rabbit Frog Hu Ch Canis Mus Gallus Rabbit Frog Hu Ch Canis Mus Gallus Rabbit Frog Hu Ch Canis Mus Gallus Rabbit Frog Hu Ch Canis Mus Gallus Rabbit http:// www.primate.or.kr Sequence analysis of AluY