Identification of the syrian hamster cardiomyopathy gene

被引：216

作者：

Nigro, V

Okazaki, Y

Belsito, A

Piluso, G

Matsuda, Y

Politano, L

Nigro, G

Ventura, C

Abbondanza, C

Molinari, AM

Acampora, D

Nishimura, M

Hayashizaki, Y

Puca, GA

机构：

[1] RIKEN, INST PHYS & CHEM RES, TSUKUBA LIFE SCI CTR, GENOME SCI LAB, TSUKUBA, IBARAKI 305, JAPAN

[2] NAGOYA UNIV, SCH AGR SCI, LAB ANIM GENET, NAGOYA, AICHI 46401, JAPAN

[3] UNIV NAPLES 2, FAC MED, DIPARTIMENTO INTERNIST CLIN & SPERIMENTALE, I-80138 NAPLES, ITALY

[4] UNIV SASSARI, FAC MED, IST CHIM BIOL, I-07100 SASSARI, ITALY

[5] INT INST GENET & BIOPHYS, I-80121 NAPLES, ITALY

[6] HAMAMATSU UNIV SCH MED, INST EXPT ANIM, HAMAMATSU, SHIZUOKA 43131, JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1997年 / 6卷 / 04期

关键词：

D O I：

10.1093/hmg/6.4.601

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The BIO14.6 hamster is a widely used model for autosomal recessive cardiomyopathy. These animals die prematurely from progressive myocardial necrosis and heart failure. The primary genetic defect leading to the cardiomyopathy is still unknown. Recently, a genetic linkage map localized the cardiomyopathy locus on hamster chromosome 9qa2.1-b1, excluding several candidate genes. We now demonstrate that the cardiomyopathy results from a mutation in the delta-sarcoglycan gene that maps to the disease locus. This mutation was completely coincident with the disease in backcross and FS pedigrees. This constitutes the first animal model identified for human sarcoglycan disorders.

引用

页码：601 / 607

页数：7

共 44 条

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