Yoshiura K I, Murray J C
Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA.
Genomics. 1997 Oct 15;45(2):425-8. doi: 10.1006/geno.1997.4926.
Homeobox-containing genes play an important role in both body axis determination and specific organ development. They have increasingly been found to be mutated in human birth defect disorders. Sequences of two bagpipe-related genes in the mouse, Nkx-3.1 and Nkx-3.2, have already been reported. Nkx-3.1 was isolated from the prostate, and its human homolog NKX-3.1 has also been described. Mouse Nkx-3.2, or bapx1, has also been isolated, and its expression in the visceral mesoderm and embryonic skeleton in the mouse has been described. We report here the human BAPX1 sequence and its localization to chromosome region 4p16.1 and suggest BAPX1 as a candidate for disorders of skeletal development that might map to 4p16.1.
含同源框的基因在体轴确定和特定器官发育过程中均发挥着重要作用。人们越来越多地发现它们在人类先天性出生缺陷疾病中发生了突变。小鼠中两个与风笛相关的基因Nkx-3.1和Nkx-3.2的序列已被报道。Nkx-3.1是从前列腺中分离出来的，其人类同源物NKX-3.1也已被描述。小鼠的Nkx-3.2，即bapx1，也已被分离出来，并描述了其在小鼠内脏中胚层和胚胎骨骼中的表达情况。我们在此报告人类BAPX1序列及其在染色体区域4p16.1上的定位，并提出BAPX1作为可能定位于4p16.1的骨骼发育障碍的候选基因。
