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

页码：2096 / 2100

页数：5

共 33 条

[1] MAPPING OF THE PHOSPHORYLASE-KINASE ALPHA SUBUNIT GENE ON THE MOUSE X-CHROMOSOME
BARNARD, PJ
DERRY, JMJ
RYDERCOOK, AS
ZANDER, NF
KILIMANN, MW
[J]. CYTOGENETICS AND CELL GENETICS, 1990, 53 (2-3): : 91 - 94
[2] THE HUMAN TYROSINE AMINOTRANSFERASE GENE MAPPED TO THE LONG ARM OF CHROMOSOME-16 (REGION 16Q22-]Q24) BY SOMATIC-CELL HYBRID ANALYSIS AND INSITU HYBRIDIZATION
BARTON, DE
YANGFENG, TL
FRANCKE, U
[J]. HUMAN GENETICS, 1986, 72 (03) : 221 - 224
[3] I/LYN MOUSE PHOSPHORYLASE-KINASE DEFICIENCY - MUTATION DISRUPTS EXPRESSION OF THE ALPHA-ALPHA'-SUBUNIT MESSENGER-RNAS
BENDER, PK
LALLEY, PA
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (24) : 9996 - 10000
[4] ISOLATION OF CDNA CLONES FOR THE CATALYTIC GAMMA-SUBUNIT OF MOUSE MUSCLE PHOSPHORYLASE-KINASE - EXPRESSION OF MESSENGER-RNA IN NORMAL AND MUTANT PHK MICE
CHAMBERLAIN, JS
VANTUINEN, P
REEVES, AA
PHILIP, BA
CASKEY, CT
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (09) : 2886 - 2890
[5] CHRISMAN TD, 1982, J BIOL CHEM, V257, P798
[6] COHEN PTW, 1981, EUR J BIOCHEM, V115, P619
[7] PHOSPHORYLASE KINASE ISOENZYMES IN DEFICIENT ICR-IAN MICE
DAEGELENPROUX, D
ALEXANDRE, Y
DREYFUS, JC
[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1978, 90 (02): : 369 - 375
[8] DEBRUIJN WC, 1975, PATHOL EUR, V10, P3
[9] CHROMOSOMAL MAPPING OF GENES INVOLVED IN GROWTH-CONTROL
FRANCKE, U
YANGFENG, TL
BRISSENDEN, JE
ULLRICH, A
[J]. COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY, 1986, 51 : 855 - 866
[10] INTRACHROMOSOMAL GENE MAPPING IN MAN - ASSIGNMENT OF NUCLEOSIDE PHOSPHORYLASE TO REGION 14CEN-]14Q21 BY INTERSPECIFIC HYBRIDIZATION OF CELLS WITH A T(X-14) (P22-Q21) TRANSLOCATION
FRANCKE, U
BUSBY, N
SHAW, D
HANSEN, S
BROWN, MG
[J]. SOMATIC CELL GENETICS, 1976, 2 (01): : 27 - 40

← 1 2 3 4 →