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Genetic Dissection of a QTL Affecting Bone Geometry

Sabik, Olivia L ; Medrano, Juan F ; Farber, Charles R

G3 : genes - genomes - genetics, 2017-03, Vol.7 (3), p.865-870 [Periódico revisado por pares]

United States: Genetics Society of America

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Título:
Genetic Dissection of a QTL Affecting Bone Geometry
Autor: Sabik, Olivia L ; Medrano, Juan F ; Farber, Charles R
Assuntos: allele-specific expression (ASE) ; Alleles ; Animals ; Body Height - genetics ; bone geometry ; bone strength ; Chromosome Mapping ; Female ; Femur - anatomy & histology ; Gene Expression Regulation ; Genome-Wide Association Study ; Humans ; Investigations ; Lod Score ; Male ; Mice, Inbred C57BL ; Organ Size - genetics ; Polymorphism, Single Nucleotide - genetics ; QTL fine-mapping ; quantitative trait loci (QTL) ; Quantitative Trait Loci - genetics
É parte de: G3 : genes - genomes - genetics, 2017-03, Vol.7 (3), p.865-870
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SourceType-Scholarly Journals-1
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Descrição: 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 ( ). was located on chromosome (Chr.) 9 at ∼20 cM. Here, we show that the HG.CAST-( )/Ucd congenic strain captures In an F2 congenic cross, we fine-mapped the location of 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 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.
Editor: United States: Genetics Society of America
Idioma: Inglês

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Genetic Dissection of a QTL Affecting Bone Geometry

Sabik, Olivia L ; Medrano, Juan F ; Farber, Charles R

United States: Genetics Society of America

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