Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosomeregion 13q11
Jc. Engert et al., Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosomeregion 13q11, GENOMICS, 62(2), 1999, pp. 156-164
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SAGS)
is a neurodegenerative disease frequent in northeastern Quebec. In a previo
us study, we localized the disease gene to chromosome region 13q11 by ident
ifying excess sharing of a marker allele in patients followed by Linkage an
alysis and haplotyping. To create a detailed physical map of this region, w
e screened CEPH mega-YACs with 41 chromosome 13 sequence-tagged-sites (STSs
) known to map to 13q11-q12. The YAG contig, composed of 27 clones, extends
on the genetic map from D13S175 to D13S221, an estimated distance of at le
ast 19.3 cM. A high-resolution BAC and PAC map that includes the ARSACS cri
tical region flanked by D13S1275 and D13S292 was constructed. These YAC and
BAC/PAC maps allowed the accurate placement of 29 genes and ESTs previousl
y mapped to the proximal region of chromosome 13q. We confirmed the positio
n of two candidate genes within the critical region and mapped the other 27
genes and ESTs to nearby intervals. Six BAC/PAC clones form a contig betwe
en D13S232 and D13S787 for sequencing within the ARSACS critical region. (C
) 1999 Academic Press.