CDNA CLONING OF A LIVER ISOFORM OF THE PHOSPHORYLASE-KINASE ALPHA-SUBUNIT AND MAPPING OF THE GENE TO XP22.2-P22.1, THE REGION OF HUMAN X-LINKED LIVER GLYCOGENOSIS

被引：68
作者：
DAVIDSON, JJ
OZCELIK, T
HAMACHER, C
WILLEMS, PJ
FRANCKE, U
KILIMANN, MW
机构：
[1] RUHR UNIV BOCHUM,INST PHYSIOL CHEM,W-4630 BOCHUM 1,GERMANY
[2] STANFORD UNIV,MED CTR,SCH MED,DEPT PEDIAT,STANFORD,CA 94305
[3] STANFORD UNIV,MED CTR,SCH MED,DEPT GENET,STANFORD,CA 94305
[4] STANFORD UNIV,MED CTR,SCH MED,HOWARD HUGHES MED INST,STANFORD,CA 94305
[5] UNIV INSTELLING ANTWERP,DEPT MED GENET,B-2610 WILRIJK,BELGIUM
来源：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1992年 / 89卷 / 06期
关键词：
GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE; X-CHROMOSOME; CHROMOSOMAL MAPPING;
D O I：
10.1073/pnas.89.6.2096
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
We have cloned cDNA molecules encoding another isoform of the a subunit of phosphorylase kinase (ATP:phosphorylase-b phosphotransferase, EC 2.7.1.38). Sequence comparison with the previously characterized muscle isoform reveals a pattern of highly conserved and variable domains and demonstrates that the isoforms are the products of distinct genes. In contrast to the muscle isoform gene, PHKA1, the gene of this additional isoform, PHKA2, is predominantly expressed in liver and other nonmuscle tissues. It was mapped to the distal short arm of the human X chromosome (Xp22.2-p22.1), the same region to which human X-linked liver glycogenosis due to phosphorylase kinase deficiency has been mapped. Thus, X-linked liver glycogenosis is probably caused by mutations affecting PHKA2.
引用
收藏
页码：2096 / 2100
页数：5
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