MOUSE GALACTOKINASE - ISOLATION, CHARACTERIZATION, AND LOCATION ON CHROMOSOME-11

被引:14
作者
AI, YJ
JENKINS, NA
COPELAND, NG
GILBERT, DJ
BERGSMA, DJ
STAMBOLIAN, D
机构
[1] UNIV PENN,SCH MED,DEPT OPHTHALMOL,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104
[3] NCI,FREDERICK CANC RES & DEV CTR,ABL BASIC RES PROGRAM,MAMMALIAN GENET LAB,FREDERICK,MD 21702
[4] SMITHKLINE BEECHAM PHARMACEUT,DEPT MOLEC GENET,KING OF PRUSSIA,PA 19406
来源
GENOME RESEARCH | 1995年 / 5卷 / 01期
关键词
D O I
10.1101/gr.5.1.53
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
Elevated galactose levels can be caused by several is galactokinase. Galactokinase deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have isolated the mouse cDNA for galactokinase, which shares extensive amino acid sequence homology 88% identity, with a recently cloned human galactokinase. It is expressed in all tissues examined. In an interspecific backcross analysis galactokinase maps to the distal region of mouse chromosome 11, a region that is homologous to human chromosome 17q22-25. The availability of the mouse gene provides an opportunity to make a knockout model for galactokinase deficiency.
引用
收藏
页码:53 / 59
页数:7
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