報告題目：CHSY1, a secreted enzyme required for bone development and digit patterning

報 告 人：田靜 教授, 西北大學生命科學EON4

報告時間：7月17日（星期四）10:00-11:00

報告地點：閔行校區EON体育4平台3號樓105會議室

聯 系 人🤏🏻：何亞文🥼，　34207941,   This e-mail address is being protected from spambots. You need JavaScript enabled to view it.

報告摘要🤽‍♀️：

We delineated a recessive Temtamy Preaxial brachydactyly with partial duplication of proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 candidate genes detected a disease-causing frameshift mutation in the gene CHSY1 encoding for a chondroitin synthase 1. CHSY1 was secreted from patient's fibroblasts and was required for synthesis of chondroitin sulfate. 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.