A MUTATION IN THE CERULOPLASMIN GENE IS ASSOCIATED WITH SYSTEMIC HEMOSIDEROSIS IN HUMANS

被引：397

作者：

YOSHIDA, K

FURIHATA, K

TAKEDA, S

NAKAMURA, A

YAMAMOTO, K

MORITA, H

HIYAMUTA, S

IKEDA, S

SHIMIZU, N

YANAGISAWA, N

机构：

[1] SHINSHU UNIV,SCH MED,DEPT LAB MED,MATSUMOTO,NAGANO 390,JAPAN

[2] SHINSHU UNIV,SCH MED,DEPT MED NEUROL,MATSUMOTO,NAGANO 390,JAPAN

[3] NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,KODAIRA,TOKYO 187,JAPAN

[4] IDEMITSU KOSAN CO LTD,CENT RES LABS,SODEGAURA,CHIBA 29902,JAPAN

[5] TOHO UNIV,SCH MED,DEPT PEDIAT,MEGURO KU,TOKYO 153,JAPAN

来源：

NATURE GENETICS | 1995年 / 9卷 / 03期

关键词：

D O I：

10.1038/ng0395-267

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. A post-mortem study of the proband revealed excessive iron deposition mainly in the brain, liver and pancreas. The G to A transition at the splice acceptor site introduces a premature termination codon at the amino acid position 991 by defective splicing, thereby truncating the carboxyl terminus of Cp in affected individuals. We conclude that the mutation in the Cp gene is associated with systemic hemosiderosis in humans.

引用

页码：267 / 272

页数：6

共 47 条

[1] THE FET3 GENE OF SACCHAROMYCES-CEREVISIAE ENCODES A MULTICOPPER OXIDASE REQUIRED FOR FERROUS IRON UPTAKE [J].