UNDULATED, A MUTATION AFFECTING THE DEVELOPMENT OF THE MOUSE SKELETON, HAS A POINT MUTATION IN THE PAIRED BOX OF PAX-1
UNDULATED, A MUTATION AFFECTING THE DEVELOPMENT OF THE MOUSE SKELETON, HAS A POINT MUTATION IN THE PAIRED BOX OF PAX-1
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DOI：
10.1016/0092-8674(88)90039-6
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发表时间：
1988-11-04
期刊：
影响因子：
64.5
通讯作者：
GRUSS, P
中科院分区：
文献类型：
--
作者：
BALLING, R;DEUTSCH, U;GRUSS, P
波状（un）纯合小鼠沿整个头尾轴表现出椎骨畸形。 Pax 1 是一种含有配对盒的小鼠基因，在腹侧骨细胞中表达，随后在整个脊柱的椎间盘中表达。我们将2号染色体上的Pax 1基因定位于β2-微球蛋白和agouti基因座之间的un映射的区域。对 un 突变体的 DNA 分析显示，Pax 1 配对盒的高度保守部分存在点突变，导致 Gly-Ser 替换。 un小鼠配对盒中的染色体位置和突变与野生型小鼠中的Pax 1基因表达相结合，暗示了Pax 1在脊柱生成中的致病作用。
undulated (un) homozygous mice exhibit vertebral malformations along the entire rostro-caudal axis. Pax 1, a murine paired box-containing gene, is expressed in ventral sclerotome cells and later in intervertebral disks along the entire vertebral column. We localized the Pax 1 gene on chromosome 2 between .beta.2-microglobulin and the agouti locus to an area where un maps. DNA analysis of the un mutant revealed a point mutation in a highly conserved part of the paired box of Pax 1, leading to a Gly-Ser replacement. The chromosomal location and the mutation in the paired box of un mice in conjunction with Pax 1 gene expression in wild-type mice implicate a causative role of Pax 1 in generation of the vertebral column.