1. Evolutionary dissection of ARMD event on LIPH gene
Jin-Han Bae1, Sang-Je Park1, Jae-Won Huh2, Dae-Soo Kim3, and Heui-Soo Kim1
1Division of Biological Sciences, College of Natural Sciences, Pusan National University, Busan , Republic of Korea
2National Primate Research Center (NPRC), KRIBB, Ochang, Chungbuk , Republic of Korea
3Korean BioInformation Center, KRIBB, Daejeon , Republic of Korea
Abstract
PNU
Results & Discussion
PNU
L I P H (lipase, member H)
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.………………………………...…………
Chr.3
Exon 1 2 3 4 5 6 7 8 9 10 S … AS
3q27
AluSc
AluY
MIR
CDS
UTR
Insertion of AluY
Sequence analysis of Exon4 in LIPH HU M CH GO GI JM RM
641 b p
Sequence analysis of AluY
PNU
Introduction
Retroelement
Pseudogene
Gene-related
Sequence
RNA intermediate 1%
Coding sequence
36% 3%
DNA element
- LTR element
+ LTR element
Amino acids of Exon4 in LIPH
Phylogenic analysis of Exon4 in LIPH 3%
Retroposon
HERV element
- env
+ env 8%
Retrotrnasposon
- RT
+ RT I
Yeast Ty1/copia/truncated HERVs
LTR
ORF1
ORF2
Human THE1
SINE
LINE P
Poly(A)
20%
Human Alu
Other region
Retrovirus II
SINE
16%
LINE
13%
gag
pol
env
LTR
Full-length HERVs/exogenous retrovirus P
ORF1
ORF2
Poly(A) L1
7SL-derived left
A-rich
7SL-derived right
poly(A)
monomer
connector
monomer
TSD
TSD
Sequence analysis of Exon4 in various species
A box
B box
Materials & Methods
PNU Hu Ch
Canis
Mus
Gallus
Rabbit
Frog Hu Ch
Canis
Mus
Gallus
Rabbit
Frog
X 35
Denature
Anneal
Extension
Template DNA
94℃
Primer
DNA polymerase
50℃
72℃
PCR
Gene Cloning
&
Sequencing
Bioinformatics Hu Ch
Canis
Mus
Gallus
Rabbit
Frog Hu Ch
Canis
Mus
Gallus
Rabbit
Frog Hu Ch
Canis
Mus
Gallus
Rabbit
Frog
References
PNU
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 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 May;121(3-4): Epub 2007 Feb 27.
3. Mills RE, Bennett EA, Iskow RC, Devine SE. Which transposable elements are active in the human genome? Trends Genet Apr;23(4): Epub 2007 Feb 27. Review.
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