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Molecular defects in the dysmyelinating mutant quaking
1Brookdale Center for Developmental and Molecular Biology, Mount Sinai Medical Center, New York, New York, USA. hardy@anton.molbio.mssm.edu
Journal of Neuroscience Research
|March 26, 1998
Summary
The quaking (qk) mutant mouse shows severe central nervous system (CNS) dysmyelination. A newly identified gene, qkI, and its encoded QKI proteins are crucial for myelin development, explaining the qk(v) phenotype.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- The quaking (qk(v)) mutant mouse model exhibits severe central nervous system (CNS) dysmyelination.
- The genetic basis for this dysmyelinating phenotype remained unknown for decades.
Purpose of the Study:
- To identify the genetic defect responsible for the quaking (qk(v)) dysmyelination phenotype.
- To investigate the role of the identified gene and its encoded proteins in myelinogenesis.
Main Methods:
- Cloning of the candidate gene qkI.
- Analysis of qkI gene expression and protein levels in wild-type and qk(v) mice.
Main Results:
- The gene qkI was identified as the cause of the quaking (qk(v)) phenotype.
- qkI encodes three proteins (QKI-5, QKI-6, QKI-7) essential for myelin formation.
- These QKI proteins are significantly reduced in myelin-forming cells of qk(v) mice.
Conclusions:
- Abnormalities in qkI gene expression underlie the quaking (qk(v)) dysmyelination phenotype.
- QKI proteins play a critical role in the process of myelinogenesis within the CNS.