PMID- 10643919
OWN - NLM
STAT- MEDLINE
DCOM- 20000128
LR  - 20190813
IS  - 0013-9580 (Print)
IS  - 0013-9580 (Linking)
VI  - 41
IP  - 1
DP  - 2000 Jan
TI  - Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome
      22q13.
PG  - 24-7
AB  - PURPOSE: Voltage-dependent calcium channel mutations have been associated with
      spinocerebellar ataxia in humans (SCA6) and with ataxia, progressive cerebellar
      degeneration, and epilepsy in mice (tottering, lethargic, and stargazer). A novel
      autosomal dominant spinocerebellar ataxia syndrome with epilepsy (SCA10) was
      recently mapped to chromosome 22q13. The human ortholog of the mouse stargazer
      locus, the calcium channel gamma subunit gene CACNG2, also is located in this
      region. Because the phenotypes of stargazer mice and SCA10 patients were similar,
      consisting of both cerebellar ataxia and seizures, we hypothesized that CACNG2
      was a likely candidate for the SCA10 locus. METHODS: Polymerase chain reaction
      (PCR) based assays were developed for two polymorphic microsatellite markers near
      CACNG2. The location of CACNG2 was determined by linkage and haplotype analysis
      of the genotypes of 22 individuals from a human pedigree segregating SCA10.
      RESULTS: SCA10 was previously localized distal to marker D22S1177 on chromosome
      22q13. We determined that CACNG2 was linked to D22S283 and D22S1177 with the
      marker order: centromere-D22S283-bcmDLB1 (CACNG2)-D22S1177-D22S423-telomere. Thus
      CACNG2 is located proximal to the SCA10 recombinant interval. CONCLUSIONS: Here
      we report the first genetic linkage of CACNG2 on chromosome 22q13 and exclude it 
      as a candidate for SCA10. In addition, our data clarify the relation between the 
      physical and genetic linkage maps of this region and will facilitate isolation of
      the SCA10 gene.
FAU - Burgess, D L
AU  - Burgess DL
AD  - Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.
      dburgess@bcm.tmc.edu
FAU - Matsuura, T
AU  - Matsuura T
FAU - Ashizawa, T
AU  - Ashizawa T
FAU - Noebels, J L
AU  - Noebels JL
LA  - eng
GR  - NS29709/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Epilepsia
JT  - Epilepsia
JID - 2983306R
RN  - 0 (Calcium Channels)
RN  - 0 (DNA Primers)
SB  - IM
MH  - Alleles
MH  - Animals
MH  - Calcium Channels/*genetics
MH  - Cerebellar Ataxia/*genetics
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DNA Primers
MH  - Genetic Linkage
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Lod Score
MH  - Mice
MH  - Microsatellite Repeats
MH  - Pedigree
MH  - Polymerase Chain Reaction/methods
MH  - *Polymorphism, Genetic
MH  - Sequence Analysis, DNA/*methods
EDAT- 2000/01/22 00:00
MHDA- 2000/01/22 00:01
CRDT- 2000/01/22 00:00
PHST- 2000/01/22 00:00 [pubmed]
PHST- 2000/01/22 00:01 [medline]
PHST- 2000/01/22 00:00 [entrez]
AID - 10.1111/j.1528-1157.2000.tb01500.x [doi]
PST - ppublish
SO  - Epilepsia. 2000 Jan;41(1):24-7. doi: 10.1111/j.1528-1157.2000.tb01500.x.