Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes-Brocks syndrome

Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes-Brocks syndrome
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DOI:
10.1016/s0925-4773(01)00364-1
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发表时间:
2001-06-01
影响因子:
2.6
通讯作者:
Kohlhase, J
Kohlhase, J
中科院分区:
生物学4区
文献类型:
--
作者:
Buck, A;Kispert, A;Kohlhase, J

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SALL 1是果蝇区域特异性同源异型基因spats(sal)的三个人类同源物之一。染色体16q12.1上的SALL 1突变导致Towns-Brocks综合征(TBS),其特征在于包括肢体、耳朵、肾脏和肛门的多器官系统的缺陷。在这里,我们分析了小鼠同源物SALL 1(Sall 1)在早期胚胎发育过程中的表达。Sall 1在发育中的大脑和四肢中的表达非常突出。其他表达部位包括中肾和后肾、透镜、嗅球、心脏、原条和生殖结节。因此,Sall 1表达在很大程度上反映了人TBS中受影响的结构。(C)2001爱思唯尔科学爱尔兰有限公司保留所有权利。
SALL1 is one of three human homologues of the Drosophila region-specific homeotic gene spats (sal). Mutations of SALL1 on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS) which is characterized by defects in multiple organ systems including limbs, ears, kidneys and anus. Here, we have analyzed the expression of the mouse homologue of SALL1 (Sall1) during early embryogenesis. Sall1 expression is very prominent in the developing brain and the limbs. Other sites of expression include the meso- and metanephros, lens, olfactory bulbs, heart, primitive streak and the genital tubercle. Hence, Sall1 expression to a large degree reflects the structures affected in human TBS. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.