1. LIPH gene (Lipase member H) located on human 3q27 is reported to be related to hair growth and loss by deletion mechanism of fourth exon. The deletion mechanism is occurred by the homologous recombination and excision event of similar Alu elements of AluSc and AluY. In this report, we investigated the evolutionary mechanism and conservation of exon 4 sequences of LIPH gene. PCR amplification indicated that AluY element have been integrated into our common ancestor genome after the divergence of Old World monkeys and Hominoid primate. Sequencing analysis of various primates DNA samples (5 hominoids, 6 Old World monkeys, and 4 New World monkeys) of exon 4 region shows one non-synonymous substitution, indicating that the region is important portion for the functional protein. The substitution event from Iso to Thr 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, Republic of Korea 2 PBBRC, Interdisciplinary Research Program of Bioinformatics, College of Natural Sciences, Pusan National University, 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 LTRORF1ORF2LTR Human THE1 ORF1ORF2 P Poly(A) L1 gagpolenv 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 B boxA box X 35 Denature Anneal Extension Template DNA 94 ℃ Primer DNA polymerase 50 ℃ 72 ℃ PCR Gene Cloning & Sequencing Bioinformatics References HUMCHGOGIJMRM 641 b p L I P H (lipase, member H) 3q27 MIRCDSAluY UTR Chr.3 … Exon 1 2345678910 S ASAS 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 0.0000.0050.0100.0150.0200.025 I II Phylogenic analysis of Exon4 in LIPH Sequence analysis of Exon4 in various species 1. 1.Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI. 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 elements 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