Abstract Introduction

Materials & Methods

Results & Discussion

PCR

Electrophoresis Gel purification

Transformation1

Transformation2

Ligation

Inoculation

Plasmid DNAIsolation

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 Kim1, Jae-Won Huh1, Dae-Soo Kim2, Hong-Seok Ha1, Kung Ahn1, 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

Pseudogenes

LTR LTR

provirus

LTR LTR

Enodgenous retrovirus

Exogenous Retroviruses

RetrotransposonsEndogenous Retroviruses

buddingproteins(gag, env)

translation

infection

REVERSE

TRANSCRIPTION

transcription

integrationcDNA

AAA

mRNA

AAA

mRNA transcription

LTR LTR

re - integration

translation

proteins(gag, env)

REVERSETRANSCRIPTION

cDNA

Particle formation(budding)

LTR LTR

re - integrationParticle formationno

re-infection

LTR LTR

retrotransposonAAAtranscription

mRNA

cDNA

REVERSETRANSCRIPTION

Cellular gene

pseudogene

splicing

AAA

REVERSETRANSCRIPTION

cDNAintegration

transcriptionspliced- mRNA

translation

proteins(gag)

Retroelement

Retroposon

SINE

Retrotransposon

RetrovirusLINE

RNA intermediate

- LTR element + LTR element

- env + env

- RT + RT

Yeast Ty1/copia/truncated HERVsLTR ORF1 ORF2 LTR

LTR LTR

Human THE1P

Poly(A)

Human Alu

ORF1 ORF2PPoly(A)L1

gag pol envLTR LTR

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 CMLTR7

NM_001033560.1

10

EXON1

2 3 4 5 6 7 8 9

EXON1 2 3 4 5 6 7 8 9

EXON1 2 3 4 5 6 7 8 9

NM_001033559.1

NM_13081.2

EXON1

2 3 4 5 6 7 8 9

EXON1

2 3 4 5 6 7 8 9

EXON1

2 3 4 5 6 7 9

NEW

TR

AN

SC

RIP

TS

EXON1

2 3 4 5 6 7 9

V1

V1-1

V2

V3

V1-2

V1-3

V1-4

7’

8’

8’

S AS

S AS

V1

V1-3

V1-4

V1-1 V1-2

mark

eradre

nal

gla

nd

cere

bellu

madult

bra

in

(whole

)heart

ki

dne

y liv

er

lung

test

istr

ach

eabone m

arr

ow

mark

erfe

tal

bra

infe

tal live

rpla

centa

pro

statesa

liva

ry

gla

nd

sk-m

uscle

spin

al

cordthym

usth

yro

idute

rus

Human Rhesus

mark

eradre

nal

gla

nd

cere

bellu

madult

bra

in

(whole

)heart

ki

dne

y liv

er

lung

test

istr

ach

eabone m

arr

ow

mark

erfe

tal

bra

infe

tal live

rpla

centa

pro

statesa

liva

ry

gla

nd

sk-m

uscle

spin

al

cordthym

usth

yro

idute

rus

V3

V2

cere

bru

m

adre

nal

gla

nd

sple

en

mark

er ce

rebellu

m heart

ki

dne

y liv

er

lung

test

istr

ach

ea m

ark

erco

lon

cecu

meso

phag

usst

om

ac

hpancr

eas

saliva

ry

gla

nd

rect

um

uri

ne

bla

dder

duoden

umje

junum

V1

V1-3

V1-4

V1-1 V1-2

mark

eradre

nal

gla

nd

cere

bellu

mce

rebru

mheart

ki

dne

y liv

er

lung

test

istr

ach

ea m

ark

erco

lon

cecu

meso

phag

us pancr

eas

saliva

ry

gla

nd

rect

um

uri

ne

bla

dder

duoden

umje

junum

sple

en

stom

ac

h

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

56100

7196

42

0.01