Trps1 Differentially Modulates the Bone Mineral Density between Male and Female Mice and Its Polymorphism Associates with BMD Differently between Women and MenReport as inadecuate




Trps1 Differentially Modulates the Bone Mineral Density between Male and Female Mice and Its Polymorphism Associates with BMD Differently between Women and Men - Download this document for free, or read online. Document in PDF available to download.

The objective of our study was to identify genetic factors that regulate bone mineral density BMD in mice using well defined recombinant inbred strains. For this purpose we chose the BXD recombinant inbred RI strains derived from progeny of the C57BL-6J B6 and DBA-2J D2 progenitor strains. We sampled both male and female mice ∼4 each of 46 strains at 3 months-of-age, measured their BMD, and conducted QTL mapping. The data were analyzed to identify candidates genes contained within the most significant quantitative trait locus QTL. Evaluation of candidate genes included functional assessment, single nucleotide polymorphism SNP genotyping and direct sequencing. We established that there was a QTL for BMD in males on chromosome 15 that has the impact larger than QTLs on all other chromosomes. The QTL on chromosome 15 was narrowed to a genomic region between 38 Mbp and 52 Mbp. By examining transcripts within this region, we found an important candidate gene: trichorhinophalangeal syndrome, type I Trps1. SNP analysis identified a nonsynonymous SNP rs32398060 in Trps1 that co-segregated with bone mineral density. Analysis of association between this SNP within TRPS1 and BMD in a human population confirmed its significance.



Author: Lishi Wang, Wenli Lu, Lei Zhang, Yue Huang, Rachel Scheib, Xiaoyun Liu, Linda Myers, Lu Lu, Charles R. Farber, Gaifen Liu, Cong-Y

Source: http://plos.srce.hr/



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