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

被引：15

作者：

Trettel, F

Mantuano, E

Calabresi, V

Veneziano, L

Olsen, AS

Georgescu, A

Gordon, L

Sabbadini, G

Frontali, M

Jodice, C

机构：

[1] Univ Roma Tor Vergata, Dipartimento Biol, I-00133 Rome, Italy

[2] CNR, Ist Med Sperimentale, I-00137 Rome, Italy

[3] Univ Calif Lawrence Livermore Natl Lab, Biol & Biotechnol Res Program, Livermore, CA 94551 USA

来源：

GENE | 2000年 / 241卷 / 01期

关键词：

EEF1D; HSPF1; polymorphic STR; PRKCA;

D O I：

10.1016/S0378-1119(99)00470-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The P/Q-type Ca2+ 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 1.4 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 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. (C) 2000 Elsevier Science B,V. All rights reserved.

引用

页码：45 / 50

页数：6

共 15 条

[1] AN INTEGRATED METRIC PHYSICAL MAP OF HUMAN-CHROMOSOME-19 [J].

ASHWORTH, LK ;

BATZER, MA ;

BRANDRIFF, B ;

BRANSCOMB, E ;

DEJONG, P ;

GARCIA, E ;

GARNES, JA ;

GORDON, LA ;

LAMERDIN, JE ;

LENNON, G ;

MOHRENWEISER, H ;

OLSEN, AS ;

SLEZAK, T ;

CARRANO, AV .

NATURE GENETICS, 1995, 11 (04) :422-427

[2] HUMAN-CHROMOSOME-19P - A FLUORESCENCE IN-SITU HYBRIDIZATION MAP WITH GENOMIC DISTANCE ESTIMATES FOR 79 INTERVALS SPANNING 20-MB [J].

BRANDRIFF, BF ;

GORDON, LA ;

FERTITTA, A ;

OLSEN, AS ;

CHRISTENSEN, M ;

ASHWORTH, LK ;

NELSON, DO ;

CARRANO, AV ;

MOHRENWEISER, HW .

GENOMICS, 1994, 23 (03) :582-&

[3]

CALANDRIELLO L, 1996, BRAIN, V120, P805

[4] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J].

Campuzano, V ;

Montermini, L ;

Molto, MD ;

Pianese, L ;

Cossee, M ;

Cavalcanti, F ;

Monros, E ;

Rodius, F ;

Duclos, F ;

Monticelli, A ;

Zara, F ;

Canizares, J ;

Koutnikova, H ;

Bidichandani, SI ;

Gellera, C ;

Brice, A ;

Trouillas, P ;

DeMichele, G ;

Filla, A ;

DeFrutos, R ;

Palau, F ;

Patel, PI ;

DiDonato, S ;

Mandel, JL ;

Cocozza, S ;

Koenig, M ;

Pandolfo, M .

SCIENCE, 1996, 271 (5254) :1423-1427

[5]

DEJONG PJ, 1989, CYTOGENET CELL GENET, V51, P985

[6] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[7] Alu-splice PCR:: a simple method to isolate exon-containing fragments from cloned human genomic DNA [J].

Fuentes, JJ ;

Pucharcós, C ;

Pritchard, M ;

Estivill, X .

HUMAN GENETICS, 1997, 101 (03) :346-350

[8] A radiation hybrid map of the human genome [J].

Gyapay, G ;

Schmitt, K ;

Fizames, C ;

Jones, H ;

VegaCzarny, N ;

Spillett, D ;

Muselet, D ;

PrudHomme, JF ;

Dib, C ;

Auffray, C ;

Morissette, J ;

Weissenbach, J ;

Goodfellow, PN .

HUMAN MOLECULAR GENETICS, 1996, 5 (03) :339-346

[9]

IOANNOU PA, 1994, NAT GENET, V6, P84, DOI 10.1038/ng0194-84

[10] ALU-PRIMED POLYMERASE CHAIN-REACTION FOR REGIONAL ASSIGNMENT OF 110 YEAST ARTIFICIAL CHROMOSOME CLONES FROM THE HUMAN X-CHROMOSOME - IDENTIFICATION OF CLONES ASSOCIATED WITH A DISEASE LOCUS [J].

NELSON, DL ;

BALLABIO, A ;

VICTORIA, MF ;

PIERETTI, M ;

BIES, RD ;

GIBBS, RA ;

MALEY, JA ;

CHINAULT, AC ;

WEBSTER, TD ;

CASKEY, CT .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (14) :6157-6161

← 1 2 →