Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.
cDNA clones from a human adult testis cDNA library were isolated and sequenced as part of a programme to produce expressed sequence tags (ESTs). ESTs were used routinely to search DNA and protein sequence databases. One clone (142) showed 60% identity to the Bacillus subtilis glycerol kinase gene at both the DNA and amino acid sequence levels. Analysis of DNA from somatic cell hybrids carrying deleted X chromosomes, has shown that clone 142 detects homologous sequences between Xp21.2-p22.1 (the interval containing the locus responsible for glycerol kinase deficiency--GKD). These sequences are deleted in two patients with GKD. Clone 142 also detects homologous sequences on Xq and at several autosomal loci. The sequences of clone 142 and two further cDNA clones isolated from a human foetal brain cDNA library are presented.
Cambridge University, Department of Pathology, UK.
C A
CA
Sargent
N A
NA
Affara
E
E
Bentley
A
A
Pelmear
D M
DM
Bailey
P
P
Davey
D
D
Dow
M
M
Leversha
H
H
Aplin
G T
GT
Besley
D000595:Amino Acid Sequence; D000818:Animals; D001412:Bacillus subtilis / Q000235:genetics*; D001426:Bacterial Proteins / Q000235:genetics*; D001483:Base Sequence; D001921:Brain; D002874:Chromosome Mapping; D003001:Cloning, Molecular / Q000379:methods*; D003360:Cosmids; D004247:DNA / Q000235:genetics; D005991:Glycerol Kinase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D017385:Sequence Homology; D016324:Sequence Tagged Sites; D013737:Testis; D014960:X Chromosome
D001426:Bacterial Proteins; D004247:DNA; D005991:Glycerol Kinase