Pltpq2^SM/J
QTL Variant Detail

Summary

• QTL variant: Pltpq2^SM/J
• Name: phospholipid transfer protein activity QTL 2; SM/J
• MGI ID: MGI:2684235
• QTL: Pltpq2 Location: unknown Genetic Position: Chr10, cM position of peak correlated region/allele: 72.31 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: SM/J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: Heterozygous animals exhibit increased Pltp activity compared to SM/J homozygotes and NZB/BlNJ homozygotes. (J:86340)

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:86340

Genome scan was performed on 217 (SM/J x NZB/BlNJ)F2 animals to identify QTLs associated with phospholipid transfer protein activity (Pltp). Parental strain NZB/BlNJ exhibits increased Pltp activity and Pltp expression compared to parental strain SM/J.

On the CHOW diet, two QTLs associated with increased Pltp activity were identified. Pltpq1 (phospholipid transfer protein activity QTL 1) mapped to 34 cM on mouse Chromosome 3 near D3Mit22 and Pltpq2 mapped to 66 cM on mouse Chromosome 10 near D10Mit271.The QTL range of Pltpq1 spans from 30 cM - 45 cM on chromosome 3. NZB/BlNJ-derived alleles confer increased Pltp activity with additive inheritance at this locus. A candidate gene mapping near Pltpq1 is Apoa1bp but analysis of this gene did not reveal sequence differences between NZB/BlNJ and SM/J. The QTL range of Pltpq2 spans from 55 cM - 70 cM on chromosome 10. Heterozygous animals exhibit increased Pltp activity compared to animals homozygous for either genotype. Candidate genes mapping near Pltp2 isNr1h4 and Apof. Nr1h4 exhibits differential expression expression between NZB/BlNJ and SM/J as well as contains SNP polymorphisms. A nonconserved amino acid change was observed in the Apof sequence between NZB/BlNJ and SM/J.

On an atherogenic diet, two QTL associated with increased Pltp activity were identified. Pltpq3 mapped to 56 cM on mouse Chromosome 9 near D9Mit15 and Pltpq4 mapped to 34 cM on mouse Chromosome 15 near D15Mit90. The QTL range of Pltpq3 spans from 50 cM - 60 cM on chromosome 9. NZB/BlNJ-derived alleles confer increased Pltp activity with an additive mode of inheritance at Pltpq3. A possible candidate gene for Pltpq3 is Scap but sequence analysis yielded only a conserved amino acid change. The QTL ranges of Pltpq4 spans from 30 cM - 45 cM on chromosome 15. SM/J-derived alleles confer increased Pltp activity with an additive mode of inheritance at Pltpq4. A candidate gene for Pltpq4 is Ppara. Sequence differences between NZB/BlNJ and SM/J were found in the 5' and 3' UTR region of Pparaand gene expression is elevated in SM/J on a chow diet compared to NZB/BlNJ.

A QTL associated with Pltp inducibility, Pltiq1, mapped to 70 cM on mouse Chromosome 4 with LOD=3.7 at D4Mit312. The QTL range of Pltiq1 spans from 60 cM - 80 cM. NZB/BlNJ-derived alleles confer increased Pltp inducibility in a dominantly inherited manner. A candidate gene mapping to the Pltiq1 region is Nr0b2. On a chow diet Nr0b2 expression is different between NZB/BlNJ and SM/J. However, no sequences differences were discovered.

References

• Original: J:86340 Korstanje R, et al., Quantitative trait locus mapping of genes that regulate phospholipid transfer activity in SM/J and NZB/BlNJ inbred mice. Arterioscler Thromb Vasc Biol. 2004 Jan;24(1):155-60
• All: 1 reference(s)