Cloning, characterization, and genomic structure of the mouse Ikbkap gene
Cloning, characterization, and genomic structure of the mouse Ikbkap gene
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DOI：
10.1089/104454901317094990
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发表时间：
2001-09-01
影响因子：
3.1
通讯作者：
Slaugenhaupt, SA
中科院分区：
文献类型：
--
作者：
Cuajungco, MP;Leyne, M;Slaugenhaupt, SA
我们实验室最近报道，人类I-κ B激酶相关蛋白（IKBYAP）基因突变是家族性自主神经功能障碍（FD）的原因。有趣的是，IKAP中的氨基酸替换与儿童支气管哮喘的风险增加相关。在这里，我们报告的小鼠Ikbkap基因，人类IKBKAP同源基因的克隆和基因组特征。与其人类对应物一样，Ikbkap编码1332个氨基酸的蛋白质，分子量约为150 kDa。Ikbkap基因产物Ikap含有37个外显子，跨度约51 kb。该蛋白与人IKAP具有80%的氨基酸同源性。它在物种间显示出非常高的保守性，并且与酵母Elp 1/Iki 3 p蛋白同源，后者是Elongator复合物的成员。Ikbkap基因定位于人类染色体9q31.3同线区域的4号染色体。由于目前还没有FD的动物模型，因此克隆小鼠Ikbkap基因是建立FD小鼠模型的重要第一步。此外，Ikbkap的克隆对于鉴定推定的哺乳动物延伸体复合物至关重要。
Our laboratory recently reported that mutations in the human I-kappaB kinase-associated protein (IKBYAP) gene are responsible for familial dysautonomia (FD). Interestingly, amino acid substitutions in the IKAP correlate with increased risk for childhood bronchial asthma. Here, we report the cloning and genomic characterization of the mouse Ikbkap gene, the homolog of human IKBKAP. Like its human counterpart, Ikbkap encodes a protein of 1332 amino acids with a molecular weight of approximately 150 kDa. The Ikbkap gene product, Ikap, contains 37 exons that span approximately 51 kb. The protein shows 80% amino acid identity with human IKAP. It shows very high conservation across species and is homologous to the yeast Elp1/Iki3p protein, which is a member of the Elongator complex. The Ikbkap gene maps to chromosome 4 in a region that is syntenic to human chromosome 9q31.3. Because no animal model of FD currently exists, cloning of the mouse Ikbkap gene is an important first step toward creating a mouse model for FD. In addition, cloning of Ikbkap is crucial to the characterization of the putative mammalian Elongator complex.