COMPARATIVE SEQUENCE-ANALYSIS OF THE HUMAN AND PUFFERFISH HUNTINGTONS-DISEASE GENES

被引：121

作者：

BAXENDALE, S

ABDULLA, S

ELGAR, G

BUCK, D

BERKS, M

MICKLEM, G

DURBIN, R

BATES, G

BRENNER, S

BECK, S

LEHRACH, H

机构：

[1] IMPERIAL CANC RES FUND,DNA SEQUENCING LAB,LONDON WC2A 3PX,ENGLAND

[2] UNIV CAMBRIDGE,MRC,MOLEC GENET UNIT,CAMBRIDGE CB2 2QQ,ENGLAND

[3] UNIV CAMBRIDGE,ADDENBROOKES HOSP,SCH CLIN,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND

[4] SANGER CTR,HINXTON CB10 1RQ,CAMBS,ENGLAND

[5] UNITED MED & DENT SCH,GUYS HOSP,DIV MED & MOLEC GENET,LONDON SE1 9RT,ENGLAND

来源：

NATURE GENETICS | 1995年 / 10卷 / 01期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng0595-67

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Huntington's disease (HD) gene encodes a novel protein with as yet no known function, In order to identify the functionally important domains of this protein, we have cloned and sequenced the homologue df the HD gene in the pufferfish, Fugu rubripes. The Fugu HD gene spans only 23 kb of genomic DNA, compared to the 170 kb human gene, and yet all 67 exons are conserved. The first coding exon, the site of the disease-causing triplet repeat, is highly conserved. However, the glutamine repeat in Fugu consists of just four residues. We also show that gene order may be conserved over longer stretches of the two genomes. Our work describes a detailed example of sequence comparison between human and Fugu, and illustrates the power of the pufferfish genome as a model system in the analysis of human genes.

引用

页码：67 / 76

页数：10

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