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首页> 外文期刊>Genomics >KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
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KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

机译：在AMME连续基因综合症中删除了类似KCNE1的基因：人和小鼠同源物的鉴定和表征。

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摘要

We describe the identification and characterization of a new gene deleted in the AMME contiguous gene syndrome. This gene is predominantly expressed in heart, skeletal muscle, spinal cord, and brain. Screening of placenta and NT2 cDNA libraries enabled us to obtain the 1.5-kb full-length transcript, which shows a 426-bp open reading frame. Since the resulting 142-amino-acid peptide has a single putative transmembrane domain and a weak but suggestive homology with KCNE1 (minK), a protein associated with the KCNQ1 potassium channel (KVLQT1), we named this new gene KCNE1-like (KCNE1L). To obtain greater insight into this new member of an apparently distinct protein family, we have identified and characterized the homologous mouse gene (Kcne1l), which encodes a peptide of 143 amino acids with 91% homology and 80% identity. The expression pattern of mouse Kcne1l in the developing embryo revealed strong signal in ganglia, in the migrating neural crest cells of cranial nerves, in the somites, and in the myoepicardial layer of the heart. The specific distribution in adult tissues, the putative channel function, and the expression pp6tern in the developing mouse embryo suggest that KCNE1L could be involved in the development of the cardiac abnormalities as well as of some neurological signs observed in patients with AMME contiguous gene syndrome. Copyright 1999 Academic Press.
机译：我们描述了在AMME连续基因综合征中删除的新基因的鉴定和表征。该基因主要在心脏，骨骼肌，脊髓和大脑中表达。胎盘和NT2 cDNA文库的筛选使我们能够获得1.5 kb的全长转录本，显示426 bp的开放阅读框。由于所得的142个氨基酸的肽具有单个推定的跨膜结构域，并且与KCNE1（minK）（与KCNQ1钾通道（KVLQT1）相关的蛋白）具有较弱但暗示的同源性，因此我们将此新基因命名为KCNE1-like（KCNE1L） 。为了更深入地了解这个明显不同的蛋白质家族的这一新成员，我们鉴定并鉴定了同源小鼠基因（Kcne11），该基因编码具有143％氨基酸的肽，具有91％的同源性和80％的同一性。小鼠Kcne11在发育中的胚胎中的表达模式在神经节，颅神经迁移的神经rest细胞，体节和心脏的心肌心层中显示出强信号。在成人组织中的特定分布，推定的通道功能以及发育中的小鼠胚胎中的pp6tern表达表明，KCNE1L可能参与心脏异常以及AMME连续基因综合征患者中观察到的一些神经系统疾病的发展。版权所有1999 Academic Press。

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