TY - JOUR
T1 - Sequence of the voltage-gated sodium channel β1-subunit in wild-type and in quivering mice
AU - Grosson, Christie L S
AU - Cannon, Stephen C.
AU - Corey, David P.
AU - Gusella, James F.
N1 - Funding Information:
We thank Hope Sweet (The Jackson Laboratory) for detailed information on the history of the qv J and vb mutations. This work was supported by Grants NS22224 (C.L.S.G. and J.F.G.), DC02281 (D.P.C.) and the Muscular Dystrophy Association (S.C.) . The nucleotide sequence data reported in this paper have been submitted to GenBank and have been assigned the accession number U46681 .
PY - 1996/12
Y1 - 1996/12
N2 - SCNIB, the human gene encoding the β1-subunit of the voltage-gated sodium channel has previously been cloned and mapped to Chr 19q13.1. The sequence of the homologous mouse gene, ScnIb, has now been determined from cDNA. The mouse gene is highly conserved, encoding a predicted protein with 99%, 98% and 96% amino acid identity to the rat, rabbit, and human homologs, respectively. DNA sequence conservation is also striking in the 3' untranslated region which shows 67% and 98% to human and rat, respectively. Unlike the human and rat homologs, high expression of mRNA from the mouse gene is confined to adult skeletal muscle and brain, and is not observed in heart. As ScnIb maps to Chr 7, in close genetic proximity to the quivering gene (qv), the coding region of ScnIb was also cloned from a qv(J)/qv(J) homozygous mouse and assessed as a candidate for the site of this genetic defect. Comparison of go and wild-type cDNAs showed no changes in the predicted amino acid sequence that could cause the qv phenotype. However, three silent polymorphisms in the DNA coding region indicate that ScnIb is close to qv, and is within a region of genetic identity with DBA/2J, the inbred background on which the qv(J) allele arose.
AB - SCNIB, the human gene encoding the β1-subunit of the voltage-gated sodium channel has previously been cloned and mapped to Chr 19q13.1. The sequence of the homologous mouse gene, ScnIb, has now been determined from cDNA. The mouse gene is highly conserved, encoding a predicted protein with 99%, 98% and 96% amino acid identity to the rat, rabbit, and human homologs, respectively. DNA sequence conservation is also striking in the 3' untranslated region which shows 67% and 98% to human and rat, respectively. Unlike the human and rat homologs, high expression of mRNA from the mouse gene is confined to adult skeletal muscle and brain, and is not observed in heart. As ScnIb maps to Chr 7, in close genetic proximity to the quivering gene (qv), the coding region of ScnIb was also cloned from a qv(J)/qv(J) homozygous mouse and assessed as a candidate for the site of this genetic defect. Comparison of go and wild-type cDNAs showed no changes in the predicted amino acid sequence that could cause the qv phenotype. However, three silent polymorphisms in the DNA coding region indicate that ScnIb is close to qv, and is within a region of genetic identity with DBA/2J, the inbred background on which the qv(J) allele arose.
KW - Chromosome 7
KW - Mouse
KW - Neuromuscular disease
KW - Quivering
KW - Voltage-gated sodium channel
KW - β-subunit
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U2 - 10.1016/S0169-328X(96)00123-4
DO - 10.1016/S0169-328X(96)00123-4
M3 - Article
C2 - 9013777
AN - SCOPUS:0030460895
SN - 0169-328X
VL - 42
SP - 222
EP - 226
JO - Molecular Brain Research
JF - Molecular Brain Research
IS - 2
ER -