Mavilio F, Simeone A, Giampaolo A, Faiella A, Zappavigna V, Acampora D, Poiana G, Russo G, Peschle C, Boncinelli E
Nature. 1986;324(6098):664-8. doi: 10.1038/324664a0.
The homoeobox is a 183 base-pair (bp) DNA sequence conserved in several Drosophila genes controlling segmentation and segment identity. Homoeobox sequences have been detected in the genome of species ranging from insects and anellids to vertebrates and homoeobox containing genes have been cloned from Xenopus, mouse and man. We recently isolated human homoeobox containing complementary DNA clones, that represent transcripts from four different human genes. One clone (HHO.c10) is selectively expressed in a 2.1 kilobase (kb) polyadenylated transcript in the spinal cord of human embryos and fetuses 5-10 weeks after fertilization. We report the characterization of a second cDNA clone, termed HHO.c13, that represents a new homoeobox gene. This clone encodes a protein of 255 amino-acid residues, which includes a pentapeptide, upstream of the homoeo domain, conserved in other Drosophila, Xenopus, murine and human homoeobox genes. By Northern analysis HHO.c13 detects multiple embryonic transcripts, which are differentially expressed in spinal cord, brain, backbone rudiments, limb buds and heart in 5-9-week-old human embryos and fetuses, in a striking organ- and stage-specific pattern. These observations suggest that in early mammalian development homoeobox genes may exert a wide spectrum of control functions in a variety of organs and body parts, in addition to the spinal cord.
同源异型框是一段183个碱基对(bp)的DNA序列,在果蝇的几个控制体节形成和体节特征的基因中保守存在。在从昆虫、环节动物到脊椎动物等多种物种的基因组中都检测到了同源异型框序列,并且已经从非洲爪蟾、小鼠和人类中克隆出了含有同源异型框的基因。我们最近分离出了含有人同源异型框的互补DNA克隆,它们代表了来自四个不同人类基因的转录本。其中一个克隆(HHO.c10)在受精后5 - 10周的人类胚胎和胎儿脊髓中,以一种2.1千碱基(kb)的多聚腺苷酸化转录本形式选择性表达。我们报道了第二个cDNA克隆HHO.c13的特征,它代表了一个新的同源异型框基因。这个克隆编码一个由255个氨基酸残基组成的蛋白质,在同源异型结构域上游包含一个五肽,该五肽在其他果蝇、非洲爪蟾、小鼠和人类同源异型框基因中保守。通过Northern分析,HHO.c13检测到多个胚胎转录本,它们在5 - 9周龄的人类胚胎和胎儿的脊髓、脑、脊柱原基、肢芽和心脏中以明显的器官和阶段特异性模式差异表达。这些观察结果表明,在哺乳动物早期发育过程中,同源异型框基因除了在脊髓中发挥作用外,可能还在多种器官和身体部位发挥广泛的控制功能。