Replication and discovery of musculoskeletal QTLs in LG/J and SM/J advanced intercross lines

Physiological Reports
Ana I Hernandez CorderoArimantas Lionikas

Abstract

The genetics underlying variation in health-related musculoskeletal phenotypes can be investigated in a mouse model. Quantitative trait loci (QTLs) affecting musculoskeletal traits in the LG/J and SM/J strain lineage remain to be refined and corroborated. The aim of this study was to map muscle and bone traits in males (n = 506) of the 50th filial generation of advanced intercross lines (LG/SM AIL) derived from the two strains. Genetic contribution to variation in all musculoskeletal traits was confirmed; the SNP heritability of muscle mass ranged between 0.46 and 0.56; and the SNP heritability of tibia length was 0.40. We used two analytical software, GEMMA and QTLRel, to map the underlying QTLs. GEMMA required substantially less computation and recovered all the QTLs identified by QTLRel. Seven significant QTLs were identified for muscle weight (Chr 1, 7, 11, 12, 13, 15, and 16), and two for tibia length, (Chr 1 and 13). Each QTL explained 4-5% of phenotypic variation. One muscle and both bone loci replicated previous findings; the remaining six were novel. Positional candidates for the replicated QTLs were prioritized based on in silico analyses and gene expression in muscle tissue. In summary, we replicated existing QTLs an...Continue Reading

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Citations

Aug 25, 2020·Autism Research : Official Journal of the International Society for Autism Research·Masoud AmiriTonya White
Nov 26, 2019·American Journal of Human Genetics·Ana I Hernandez CorderoArimantas Lionikas
Apr 24, 2021·G3 : Genes - Genomes - Genetics·Anna L TylerGregory W Carter
Dec 12, 2021·Journal of the American Society of Nephrology : JASN·Nicholas J SteersAli G Gharavi

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Methods Mentioned

BETA
genotyping
dissection
dissections
Assay
PCR

Software Mentioned

Mouse Map Converter
phen2
QTLR el
QTLRel
GEMMA
Poly

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