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Genetics of skeletal proportions across two different populations
Keywords sitting height ratio height growth body proportion GWAS genome-wide association study fine-mapping gene set enrichment analysis gene prioritization trans-ancestry Introduction Human height has long been studied as a model polygenic phenotype due to its high heritability,1,2,3,4,5 polygenicity,6 and ease of accurate measurement.
Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci
A potential focus for future investigations is genes discovered in our screening that have limited or unknown connections to the growth plate in current literature. One such gene is Det1, an E3 ubiquitin ligase and member of the DET1-COP1 complex, required for ubiquitination and subsequent degradation of target proteins.
Genes with Specificity for Expression in the Round Cell Layer of the Growth Plate are Enriched in GWAS of Human Height
Abstract Human adult height reflects the outcome of childhood skeletal growth. Growth plate (epiphyseal) chondrocytes are key determinants of height. As epiphyseal chondrocytes mature and proliferate, they pass through three developmental stages, which are organized into three distinct layers in the growth plate: 1) resting (round), 2) proliferative (flat), and 3) hypertrophic.
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