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cDNA sequence and chromosomal localization of the mouse parvalbumin gene, Pva
Abstract:
In the homozygous condition, the mutation adr (arrested development of righting response) of the mouse causes a myotonia and a drastic reduction of the Ca2+-binding protein parvalbumin (PV) in fast muscles. Using a rat PV probe, a mouse cDNA clone was isolated from a lambda gt11 wild-type fast-muscle library and its nucleotide sequence was determined. The protein coding and the 3' nontranslated regions of the mouse gene show extensive homology with the rat PV gene. The result of Southern blot hybridization is consistent with a single copy gene for parvalbumin. Restriction fragment length polymorphisms (RFLPs) between Mus musculus domesticus (e.g. C57BL/6) and Mus spretus (SPE) were detected with the enzymes Eco RI, Pst I, and Sst I. The restriction fragment patterns of DNA samples from 65 individual offspring of (C57BL/6 x SPE)F1 x C57BL/6 backcrosses were tested with the PV probe and matched, for linkage detection, to pre-existing patterns established with various RFLP probes on the same samples. A co-distribution of PV-RFLPs with Pvt-1 and Mlvi-2, which had been localized on chromosome 15, was detected. Thus, the structural gene for PV, designated Pva, maps to chromosome 15 of the mouse whereas the adr mutation shows no linkage with markers on this chromosome. Gene locus homology between chromosome 15 of the mouse and chromosome 22 of man (which carries the human PV gene) is discussed.
Insights
The mouse parvalbumin (PV) gene (Pva) is located on chromosome 15. The mutation causing arrested development of righting response (adr) in mice does not link to this chromosome.
Area of Science:
- Molecular Genetics
- Neuroscience
- Comparative Genomics
Background:
- The adr mutation in mice leads to myotonia and reduced parvalbumin (PV) in fast muscles.
- Parvalbumin is a crucial Ca2+-binding protein in fast-twitch muscle fibers.
Purpose of the Study:
- To isolate and characterize the mouse parvalbumin (PV) gene.
- To determine the chromosomal location of the mouse PV gene (Pva).
- To investigate the linkage of the adr mutation to the Pva gene locus.
Main Methods:
- Isolation and sequencing of a mouse PV cDNA clone.
- Southern blot hybridization to assess gene copy number.
- Restriction fragment length polymorphism (RFLP) analysis using Mus musculus domesticus and Mus spretus DNA.
- Linkage analysis in backcross progeny using PV-RFLPs and known chromosome 15 markers.
Main Results:
- The mouse PV gene exhibits high homology to the rat PV gene.
- Southern blots indicate a single copy of the PV gene in mice.
- PV-RFLPs were identified and mapped to mouse chromosome 15, co-localizing with Pvt-1 and Mlvi-2.
- The adr mutation did not show linkage to markers on chromosome 15.
Conclusions:
- The structural gene for parvalbumin (Pva) is located on mouse chromosome 15.
- The adr mutation is not linked to the Pva locus on chromosome 15.
- The findings support conserved gene locus homology between mouse chromosome 15 and human chromosome 22.