编码指节蛋白的F-box/WD40基因家族的一个新成员在小鼠指节发育不全突变体中被破坏。
A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant.
作者信息
Sidow A, Bulotsky M S, Kerrebrock A W, Birren B W, Altshuler D, Jaenisch R, Johnson K R, Lander E S
机构信息
Departments of Pathology and Genetics, SUMC R248B, Stanford, California 94305-5324, USA.
出版信息
Nat Genet. 1999 Sep;23(1):104-7. doi: 10.1038/12709.
Early outgrowth of the vertebrate embryonic limb requires signalling by the apical ectodermal ridge (AER) to the progress zone (PZ), which in response proliferates and lays down the pattern of the presumptive limb in a proximal to distal progression. Signals from the PZ maintain the AER until the anlagen for the distal phalanges have been formed. The semidominant mouse mutant dactylaplasia (Dac) disrupts the maintenance of the AER, leading to truncation of distal structures of the developing footplate, or autopod. Adult Dac homozygotes thus lack hands and feet except for malformed single digits, whereas heterozygotes lack phalanges of the three middle digits. Dac resembles the human autosomal dominant split hand/foot malformation (SHFM) diseases. One of these, SHFM3, maps to chromosome 10q24 (Refs 6,7), which is syntenic to the Dac region on chromosome 19, and may disrupt the orthologue of Dac. We report here the positional cloning of Dac and show that it belongs to the F-box/WD40 gene family, which encodes adapters that target specific proteins for destruction by presenting them to the ubiquitination machinery. In conjuction with recent biochemical studies, this report demonstrates the importance of this gene family in vertebrate embryonic development.
脊椎动物胚胎肢体的早期生长需要顶外胚层嵴(AER)向进展区(PZ)发出信号,进展区对此作出反应,进行增殖并以从近端到远端的顺序奠定假定肢体的模式。来自进展区的信号维持顶外胚层嵴,直到远端指骨的原基形成。半显性小鼠突变体并指(趾)发育不全(Dac)破坏了顶外胚层嵴的维持,导致发育中的足板或肢体远端结构的截断。成年Dac纯合子因此除了畸形的单指(趾)外没有手和脚,而异合子则缺少中间三个指(趾)的指骨。Dac类似于人类常染色体显性分裂手/足畸形(SHFM)疾病。其中一种,SHFM3,定位于10q24染色体(参考文献6,7),与19号染色体上的Dac区域同线,可能破坏Dac的同源物。我们在此报告Dac的定位克隆,并表明它属于F-box/WD40基因家族,该家族编码通过将特定蛋白质呈递给泛素化机制来靶向其进行破坏的衔接蛋白。结合最近的生化研究,本报告证明了该基因家族在脊椎动物胚胎发育中的重要性。