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Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency
E P O'Brien1, E K Novak, L Zhen
1Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, New York 14263.
Abstract:
The recessive muted (mu) and pearl (pe) mutations on Chromosome (Chr) 13 cause pigment dilution and platelet storage pool deficiency (SPD) in mice. In addition, mu causes inner ear abnormalities and pe has symptoms associated with night blindness. Using an interspecific backcross involving the wild-derived Mus musculus musculus (PWK) stock, we have mapped 33 microsatellite markers and four cDNAs relative to mu, pe, and another recessive mutation, satin (sa). Analyzing a total of 528 backcross offspring, we found tight linkage between the pigment loci and several microsatellite markers (D13Mit87, D13Mit88, D13Mit137 with mu; and D13Mit104, D13Mit160, D13Mit161, and D13Mit169 with pe). These markers should aid the eventual molecular identification of these specific SPD genes.
Insights
Researchers mapped mouse mutations causing pigment dilution and platelet storage pool deficiency (SPD). Tight linkage was found between these pigment genes and specific microsatellite markers on Chromosome 13.
Area of Science:
- Genetics
- Molecular Biology
- Animal Models
Background:
- Recessive mutations muted (mu) and pearl (pe) in mice lead to pigment dilution and platelet storage pool deficiency (SPD).
- These mutations also cause distinct phenotypes: mu is linked to inner ear abnormalities, and pe is associated with night blindness.
- Understanding the genetic basis of these SPD mutations is crucial for further research.
Purpose of the Study:
- To map the chromosomal locations of the mouse muted (mu) and pearl (pe) mutations.
- To identify microsatellite markers tightly linked to these pigment and SPD-related genes.
- To facilitate the molecular identification of the genes responsible for SPD in mice.
Main Methods:
- An interspecific backcross was performed using the wild-derived Mus musculus musculus (PWK) stock.
- 33 microsatellite markers and four cDNAs were mapped relative to the mu, pe, and satin (sa) mutations.
- Genetic linkage analysis was conducted on 528 backcross offspring.
Main Results:
- Tight genetic linkage was established between the mu mutation and microsatellite markers D13Mit87, D13Mit88, and D13Mit137 on Chromosome 13.
- Tight genetic linkage was also observed between the pe mutation and markers D13Mit104, D13Mit160, D13Mit161, and D13Mit169 on Chromosome 13.
- These findings provide valuable genetic markers for the studied mutations.
Conclusions:
- The identified microsatellite markers are in close proximity to the mu and pe genes.
- These markers will significantly aid in the future molecular cloning and identification of the specific genes responsible for platelet storage pool deficiency (SPD).
- This research provides a foundation for understanding the genetic underpinnings of SPD and related traits in mice.