DESCRIPTION:

QTL associated with spinal bone mineral density 2. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (31180075)

LABEL:

QTL-Sbmd2-Mouse-Chr 2

SCORE TYPE:

Binary

DATE ADDED:

2012-04-02

DATE UPDATED:

2024-04-25

SPECIES:

URI:

http://www.informatics.jax.org/searches/accession_report.cgi?id=MGI:2662976

AUTHORS:

Zhang Q, Qiu P, Arreaza MG, Simon JS, Golovko A, Laverty M, Vassileva G, Gustafson EL, Rojas-Triana A, Bober LA, Hedrick JA, Monsma FJ Jr, Greene JR, Bayne ML, Murgolo NJ

TITLE:

P518/Qrfp sequence polymorphisms in SAMP6 osteopenic mouse.

JOURNAL:

Genomics Nov 2007, Vol 90, pp. 629-35

ABSTRACT:

Mice lacking GPR103A expression display osteopenia. Analysis of mouse quantitative trait loci literature associated with bone mineral density suggested GPR103A ligand P518/Qrfp (chromosome 2qB) as a candidate osteoporosis gene. Promoter and coding regions of mouse P518/Qrfp were sequenced from genomic DNA obtained from the osteoporosis-prone strain SAMP6 and control strains SAMR1, A/J, AKR/J, BALB/c, C3H/HeJ, C57BL/6J, and DBA/2J. Four single-nucleotide polymorphisms (SNPs) were identified in only SAMP6 genomic DNA, g.-1773 T-->C, g.110 A-->G (N37S), g.188 G-->A (R63K), and g.135 T-->C (H45H). The promoter SNP generated a novel neuron-restrictive silencing factor binding site, a repressor that decreases gene expression in nonneuronal tissues. TaqMan analysis demonstrated fivefold lower P518/Qrfp liver expression in SAMP6 versus SAMR1 or C57BL/6J control strains. Tissue distribution of human, mouse, and rat P518/Qrfp and its receptors showed expression in bone and spinal cord. A direct role for P518/Qrfp function in maintaining bone mineral density is suggested. PUBMED: 17869477
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