1. AbstractIntroduction Materials & Methods Results & Discussion PCR Electrophoresis Gel purification Transformation1 Transformation2 Ligation Inoculation Plasmid DNA Isolation Gene Cloning References Genomic DNAs & cDNA PCR & RT-PCR Bioinformatics QIAEX II gel extraction kit(Qiagen) High Pure plasmid isolation kit BLAST,MEGA3 Human, Monkeys Activation of HERV-H LTR in DYX1C1 gene during the primate evolution Yun-Ji Kim 1, Jae-Won Huh 1, Dae-Soo Kim 2, Hong-Seok Ha 1, Kung Ahn 1, Ja-Rang Lee 1, 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 Pseudogenes LTR provirus LTR Enodgenous retrovirus Exogenous Retroviruses Retrotransposons Endogenous Retroviruses budding proteins (gag, env) translation infection REVERSE TRANSCRIPTION transcription integration cDNA AAA mRNA AAA transcription LTR re - integration translation proteins (gag, env) REVERSE TRANSCRIPTION cDNA Particle formation(budding) LTR re - integration Particle formation no re-infection LTR retrotransposon AAA transcription mRNA cDNA REVERSE TRANSCRIPTION Cellular gene pseudogene splicing AAA REVERSE TRANSCRIPTION cDNA integration transcription spliced- mRNA translation proteins (gag) Retroelement Retroposon SINE Retrotransposon Retrovirus LINE RNA intermediate - LTR element+ LTR element - env+ env - RT+ RT Yeast Ty1/copia/truncated HERVs LTRORF1ORF2LTR Human THE1 P Poly(A) Human Alu ORF1ORF2P Poly(A) L1 gagpolenvLTR Full-length HERVs/exogenous retrovirus 1.Sin HS, Huh JW, Kim DS, Kang DW, Min DS, Kim TH, Ha HS, Kim HH, Lee SY, Kim HS. (2006) Transcriptional control of the HERV-H LTR element of the GSDML gene in human tissues and cancer cells. Arch Virol. 151(10):1985-94. 2. Okahara G, Matsubara S, Oda T, Sugimoto J, Jinno Y, Kanaya F. (2004) Expression analyses of human endogenous retroviruses (HERVs): tissue-specific and developmental stage-dependent expression of HERVs. Genomics. 84(6):982-90 DYX1C1 (dyslexia susceptibility 1 candidate 1) gene on human chromosome 15q21.3 is a candidate gene for developmental dyslexia. The DYX1C1 has three alternatively spliced transcripts. We found that one of transcripts is related to HERV-H LTR element that could affect the protein-coding region. The HERV-H LTR element on human DYX1C1 gene seems to have been integrated into our common ancestor genome after the divergence of Old World monkeys and New World monkeys. The DYX1C1 gene was expressed in several human tissues with different spliced forms. It also showed similar expression patterns in various monkey tissues. Taken together, integration event of the HERV-H LTR element ………………...contributed to the transcript diversification of …………….......DYX1C1 during the primate evolution.………. Chr.15 q21.3 799bp M HU CH GO OR GI JM RH NM SQ CM LTR7 V1 V1-3 V1-4 V1-1 V1- 2 marker adrenal gland cerebellum adult brain (whole) heart kidney liverlungtestistrachea bone marrow marker fetal brain fetal liverplacenta prostate salivary gland sk-muscle spinal cord thymusthyroiduterus HumanRhesus marker adrenal gland cerebellum adult brain (whole) heart kidney liverlungtestistrachea bone marrow marker fetal brain fetal liverplacenta prostate salivary gland sk-muscle spinal cord thymusthyroiduterus V3 V2 cerebrum adrenal gland spleen marker cerebellum heart kidney liverlungtestistracheamarker colon cecumesophagus stomach pancreas salivary gland rectum urine bladder duodenum jejunum V1 V1-3 V1-4 V1-1 V1- 2 marker adrenal gland cerebellum cerebrum heart kidney liverlungtestistracheamarker colon cecum esophagus pancreas salivary gland rectum urine bladder duodenum jejunum spleen stomach V3 V2 Coding region Untranslated region LTR7 DYX1C1 HU DYX1C1 CH DYX1C1 GO DYX1C1 GI DYX1C1 JM DYX1C1 RH DYX1C1 SQ DYX1C1 NM DYX1C1 CM 100 56 100 71 96 42 0.01