Genetic Dissection of a QTL Affecting Bone Geometry.

Autor: Sabik OL; Center for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, Virginia 22908.; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, Virginia 22908., Medrano JF; Department of Animal Science, University of California, Davis, California 95616., Farber CR; Center for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, Virginia 22908 crf2s@virginia.edu.; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, Virginia 22908.; Department of Public Health Science, School of Medicine, University of Virginia, Charlottesville, Virginia 22908.
Jazyk: angličtina
Zdroj: G3 (Bethesda, Md.) [G3 (Bethesda)] 2017 Mar 10; Vol. 7 (3), pp. 865-870. Date of Electronic Publication: 2017 Mar 10.
DOI: 10.1534/g3.116.037424
Abstrakt: Parameters of bone geometry such as width, length, and cross-sectional area are major determinants of bone strength. Although these traits are highly heritable, few genes influencing bone geometry have been identified. Here, we dissect a major quantitative trait locus (QTL) influencing femur size. This QTL was originally identified in an F2 cross between the C57BL/6J-hg/hg (HG) and CAST/EiJ strains and was referred to as femur length in high growth mice 2 ( Feml2 ). Feml2 was located on chromosome (Chr.) 9 at ∼20 cM. Here, we show that the HG.CAST-( D9Mit249-D9Mit133 )/Ucd congenic strain captures Feml2 In an F2 congenic cross, we fine-mapped the location of Feml2 to an ∼6 Mbp region extending from 57.3 to 63.3 Mbp on Chr. 9. We have identified candidates by mining the complete genome sequence of CAST/EiJ and through allele-specific expression (ASE) analysis of growth plates in C57BL/6J × CAST/EiJ F1 hybrids. Interestingly, we also find that the refined location of Feml2 overlaps a cluster of six independent genome-wide associations for human height. This work provides the foundation for the identification of novel genes affecting bone geometry.
(Copyright © 2017 Sabik et al.)
Databáze: MEDLINE