【摘 要】
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Temtamy preaxial brachydactyly syndrome (TPBS) is a new type of autosomal-recessive congenital brachydactyly syndrome mainly characterized by congenital ske
【机 构】
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ThecollegeofLifeSciences,NorthwestUniversity,ChinaDivisionofHumanGeneticsandGenomeResearch,NationalR
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Temtamy preaxial brachydactyly syndrome (TPBS) is a new type of autosomal-recessive congenital brachydactyly syndrome mainly characterized by congenital skeletal anomalies most evident on the hands and feet, symmetrical and bilateral preaxial brachydactyly, micrognathia, short stature and variable degrees of learning disability.Our previous study demonstrates that TPBS is caused by loss-of-function mutation in chondroitin synthase 1 (CHSY1).CHSY1 is one of a family of enzymes that participates chondroitin sulfate biosynthesis by catalyzing the extension of chondroitin and dermatan sulfate glycosaminoglycans.Chsy1-knockdown in zebrafish embryos partially phenocopies the human disorder:impairing skeletogenesis, pectoral fin development and leading to dramatic retinal overgrowth.In concordance with the observation in fish, we further demonstrate that Chsy1 knockout mice, though viable, display skeletal abnormalities and chondrodysplasia.Our results reveal a conserved role for CHSY1 in bone development and digit patterning during vertebrate embryogenesis.
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