A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome

The P/Q-type Ca2+ channel alpha(1A) subunit gene (CACNA1A) was cloned on th e short arm of chromosome 19 between the markers D19S221 and D19S179 and fo und to be responsible for Episodic Ataxia type 2, Familial Hemiplegic Migra ine and Spinocerebellar Ataxia type 6. This region was physically mapped by 11 cosmid contigs spanning about 1.4 Mb, corresponding to less than 70% of the whole region. The cosmid contig used to characterize the CACNA1A gene accounted only for the coding region of the gene lacking, therefore, the pr omoter and possible regulation regions. The present study improves the phys ical map around and within the CACNA1A by giving a complete cosmid or BAC c ontig coverage of the D19S221-D19S179 interval. A number of new STSs, wheth er polymorphic or not, were characterized and physically mapped within this region. Four ESTs were also assigned to cosmids belonging to specific cont igs. (C) 2000 Elsevier Science B,V. All rights reserved.