title: A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.
abstract: The P/Q-type Ca(2+) channel alpha(1A) subunit gene (CACNA1A) was cloned on the short arm of chromosome 19 between the markers D19S221 and D19S179 and found to be responsible for Episodic Ataxia type 2, Familial Hemiplegic Migraine and Spinocerebellar Ataxia type 6. This region was physically mapped by 11 cosmid contigs spanning about 1. 4Mb, 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 promoter and possible regulation regions. The present study improves the physical map around and within the CACNA1A by giving a complete cosmid or BAC contig coverage of the D19S221-D19S179 interval. A number of new STSs, whether polymorphic or not, were characterized and physically mapped within this region. Four ESTs were also assigned to cosmids belonging to specific contigs.
authors.affiliation: Dipartimento di Biologia, Università 'Tor Vergata', Via della Ricerca Scientifica, 00133, Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Trettel
authors.forename: E
authors.initials: E
authors.lastname: Mantuano
authors.forename: V
authors.initials: V
authors.lastname: Calabresi
authors.forename: L
authors.initials: L
authors.lastname: Veneziano
authors.forename: A S
authors.initials: AS
authors.lastname: Olsen
authors.forename: A
authors.initials: A
authors.lastname: Georgescu
authors.forename: L
authors.initials: L
authors.lastname: Gordon
authors.forename: G
authors.initials: G
authors.lastname: Sabbadini
authors.forename: M
authors.initials: M
authors.lastname: Frontali
authors.forename: C
authors.initials: C
authors.lastname: Jodice
mesh_terms: D015139:Blotting, Southern; D015220:Calcium Channels / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D020451:Contig Mapping; D003360:Cosmids; D020224:Expressed Sequence Tags; D015723:Gene Library; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008957:Models, Genetic; D016324:Sequence Tagged Sites; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; D005819:Genetic Markers; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type