A MUTATION IN THE HOMEODOMAIN OF THE HUMAN MSX2 GENE IN A FAMILY AFFECTED WITH AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS
A MUTATION IN THE HOMEODOMAIN OF THE HUMAN MSX2 GENE IN A FAMILY AFFECTED WITH AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS
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DOI：
10.1016/0092-8674(93)90379-5
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发表时间：
1993-11-05
期刊：
影响因子：
64.5
通讯作者：
MAXSON, R
中科院分区：
文献类型：
--
作者：
JABS, EW;MULLER, U;MAXSON, R
颅缝早闭，颅骨缝的过早融合，是一种常见的发育异常，导致异常的头骨形状。一种常染色体显性颅缝早闭的基因座已定位于染色体5qter。人类MSX2基因定位于5号染色体，并且MSX2内含子中的多态性标记在没有重组的疾病亲属中分离。此外，组氨酸取代高度保守的脯氨酸在位置7的MSX2同源结构域专门在受影响的成员。 在小鼠中，Msx2基因的转录本定位于颅骨缝。这些结果提供了令人信服的证据表明，突变导致这种颅缝早闭综合征。
Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of craniosynostosis has been mapped to chromosome 5qter. The human MSX2 gene localizes to chromosome 5, and a polymorphic marker in the MSX2 intron segregates in a kindred with the disorder with no recombination. Moreover, a histidine substitutes for a highly conserved proline at position 7 of the MSX2 homeodomain exclusively in affected members. In the mouse, transcripts of the Msx2 gene are localized to calvarial sutures. These results provide compelling evidence that the mutation causes this craniosynostosis syndrome.