Integration of LTR12C element and Integration of LTR12C element and its expression in human TMOD1 geneits expression in human TMOD1 geneYi-Deun Jung1, Jae-Won Huh1,2, Dae-Soo Kim3, Hong-Seok Ha1 and Heui-Soo Kim1

1 Division of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Republic of Korea2 National Primate Research Center, KRIBB, Ochang, Chungbuk 363-883, Republic of Korea

3 Korea Bioinformation Center, KRIBB, Daejeon 305-806, Republic of Korea

http://www.primate.or.kr

AbstractTMOD1 (Tropomodulins) gene comprises a unique family of capping proteins for actin filament pointed end capping proteins with a characteristic leucine-rich-repeat at their C-terminus. In mammals, there are 4 Tmod genes with different expression profiles. Among that, the TMOD1 gene is only expressed in human heart muscle cells and has 9 exons encoding 360 amino acids at human chromosome 9q22.33. Within the intron 7 of the TMOD1 gene, several mobile elements including MIR, LINE, AluY and LTR12C are identified. LTR12C is included in ERV9 family which is low repeated family of human endogenous retroviral elements. ERV9 has close to 50 members and 4000 solitary LTRs al least. PCR amplification and sequencing data about LTR12C indicated that hominoids genome contained the LTR12C elements on those TMOD1 genes. Within the LTR12C sequences, the AluY was detected in gibbons only. The LTR12C element on TMOD1 gene was ubiquitously expressed in various human tissues by RT-PCR amplification. Taken together, we suggest that integration of the mobile genetic elements seem to have biological roles in human tissues.

Introduction Materials & Methods

8%

TSD TSDLTR gag pol env LTR

PBS

gag : coding for matrix and capsid proteinspol : reverse transcriptase and integrase proteins

env : product viral envelope and transmembrane structures

LTR : long terminal repeatLINE : long integrated nuclear elementSINE : short integrated nuclear elementHERV : Human endogenous retro-virus

RNase

Viral RNA

Capsid : core proteins

Receptor

binding

proteins

Lipid

envelope

Human & Primate genomic DNA

Bioinformatics ( in silico analysis TMOD1 gene )

Genomic DNA PCR & Gene cloning

RT PCR ( Human original & EST form)

Sequencing , Alignment

Results & DiscussionTMOD1 (Tropododulin1)

Chr 9

q22.33

1 2 3 4 5 6 7 8 9

7 81419 bp

MIR3(MIR/SINE)

LINE3B(L1/LINE1)

MLT1F1(MaLR/LTR)

LTR12C(ERV/LTR)

L1MC4a(L1/LINE)

AluJo(Alu/SINE)

AluY(Alu/SINE)

L3(CR1/LINE)

AluSx(Alu/SINE)

1 2 3 4 5 6 7 8 9

BE_393102

DA_586363

BM_728482

M Hu Ch Go Or Gi Jm Rh Nm Cm

7 81419 bp

Alu Y

HUMAN

Gibbon monkey (H. pileatus)

Alternative splicing transcript

Detect LTR12C in primates

Sequencing & Alignment data

Alu Y

1 2 3 4 5 6 7 8 9 10M 11 12 13 14 15 16 17 18 19 20M

Reference

1 : adrenal gland, 2 : bone marrow, 3 : adult brain cerebellum, 4 : adult brain whole, 5 : fetal brain, 6 : fetal liver, 7 : heart, 8 : kidney, 9 : liver, 10 : lung, 11 : placenta, 12 : salivary gland, 13 : SK-muscle, 14 : spinal cord, 15 : testis, 16 : prostate, 17 : thymus,

18 : thyroid, 19 : trachea, 20 : uterus

RT-PCR (original transcript & EST form)

CDSUTR

1. Robert S. Fischer and Velia M. Fowler, 2003. Tropomodulins: life at the slow end . TRENDS in Cell Biology .13, No.11 .

2. Gifford R. Tristem M, 2003. The evolution, distribution and diversity of endogenous retroviruses. Virus Genes. 26(3) : 291-315