The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20.
Hereditary cystatin C amyloid angiopathy has recently been shown to be caused by a point mutation in the cystatin C gene. To determine the chromosomal localization of the gene, 20 human-rodent somatic cell hybrids and a full-length cystatin C cDNA probe were used. Southern blot analysis of BamHI digested cell hybrid DNA revealed that the probe recognizes a 10.6 kb human specific fragment and that this fragment cosegregates with human chromosome 20. Therefore, the human cystatin C gene (CST3) was assigned to chromosome 20.
Abrahamson
M
M
Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
Islam
M Q
MQ
Szpirer
J
J
Szpirer
C
C
Levan
G
G
D000686:Amyloidosis / Q000201:enzymology / Q000235:genetics*; D000818:Animals; D015139:Blotting, Southern; D002539:Cerebral Arterial Diseases / Q000201:enzymology / Q000235:genetics*; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D055316:Cystatin C; D015891:Cystatins; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D006801:Humans; D006822:Hybrid Cells; D051379:Mice; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011480:Protease Inhibitors / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D051381:Rats
C525030:CST3 protein, human; C525031:Cst3 protein, mouse; C525032:Cst3 protein, rat; D055316:Cystatin C; D015891:Cystatins; D015342:DNA Probes; D011480:Protease Inhibitors; D011506:Proteins; D004247:DNA