Smith C A, Tuan R S
Department of Orthopaedic Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
Clin Orthop Relat Res. 1994 May(302):241-50.
The human gene HuP48 is a member of the PAX family of developmental control genes. Common to all members of this family is a highly conserved DNA sequence, the paired box sequence. In several species, paired box-containing genes function in normal embryonic morphogenesis. To investigate the possible involvement of PAX genes in the development of the human skeleton, the authors analyzed the expression of the paired box-containing gene, HuP48, in the fetal human vertebral column. In addition, the authors sequenced the paired box region of HuP48 from patients with congenital vertebral anomalies associated with Klippel-Feil syndrome. Using in situ hybridization, it was observed that HuP48 is expressed in a segmented pattern in the developing spine, specifically in the cells of the intervertebral disks of seven- to eight-week-old fetuses. At this stage in development, HuP48 expression appears to be restricted to the vertebral column. The pattern of expression of HuP48 indicates that it plays a role in establishing the segmented pattern of the vertebral column, perhaps by helping to establish and/or maintain, or both, a border between two different populations of cells, those of the prevertebrae and those of the intervertebral disks. Analysis of HuP48 paired box sequences in genomic DNA obtained from patients with congenital segmentation anomalies revealed no mutations in this highly conserved sequence.
人类基因HuP48是发育控制基因PAX家族的成员。该家族所有成员的共同特征是具有一个高度保守的DNA序列，即配对盒序列。在几个物种中，含配对盒的基因在正常胚胎形态发生中发挥作用。为了研究PAX基因可能参与人类骨骼发育的情况，作者分析了含配对盒基因HuP48在人类胎儿脊柱中的表达。此外，作者对患有与克利佩尔-费尔综合征相关的先天性脊柱异常的患者的HuP48配对盒区域进行了测序。通过原位杂交观察到，HuP48在发育中的脊柱中呈节段性表达，特别是在7至8周龄胎儿的椎间盘细胞中。在这个发育阶段，HuP48的表达似乎仅限于脊柱。HuP48的表达模式表明它在建立脊柱的节段模式中发挥作用，可能是通过帮助建立和/或维持，或同时建立和维持椎前细胞和椎间盘细胞这两种不同细胞群体之间的边界。对从患有先天性节段异常的患者获得的基因组DNA中的HuP48配对盒序列进行分析，结果显示在这个高度保守的序列中没有突变。
