Cloning, characterization, and the complete 56.8-kilobase DNA sequence of the human NOTCH4 gene
Cloning, characterization, and the complete 56.8-kilobase DNA sequence of the human NOTCH4 gene
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DOI：
10.1006/geno.1998.5330
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发表时间：
1998-07-01
期刊：
影响因子：
4.4
通讯作者：
Hood, L
中科院分区：
文献类型：
--
作者：
Li, LH;Huang, GM;Hood, L
对迄今为止报道的Notch基因家族中的第一个完整的哺乳动物基因组序列进行了测序，包括跨越56.8 kb DNA的人NOTCH 4基因的推定启动子区和30个外显子。NOTCH 4基因座含有一个TATA-少启动子，该启动子具有两个推定的转录起始位点（Inr）、三个RBP-J κ位点和两个加塔识别位点。鉴定了两种cDNA亚型，NOTCH 4（L）和NOTCH 4（S）。尽管NOTCH 4（S）同种型含有整个编码序列，但NOTCH 4（L）同种型在外显子11和12以及外显子20和21之间具有两个未剪接的内含子序列以及错误剪接的外显子6。与这些结果一致，通过北方印迹分析检测到约9.3和6.7 kb的转录物的两种选择性剪接同种型。基于NOTCH 4（S）cDNA序列预测的NOTCH 4蛋白的氨基酸序列包含2003个氨基酸，并包括Notch家族的主要基序：29个表皮生长因子（EGF）样重复序列、3个Notch/lin-12重复序列、跨膜区、6个cdc 10/Ankyrin重复序列和PEST结构域。(C)北京：科学出版社.
The first complete mammalian genomic sequence reported thus far in the Notch gene family, including a putative promoter region and 30 exons of the human NOTCH4 gene spanning 56.8 kb of DNA, were sequenced. The NOTCH4 locus contains a TATA-less promoter with two putative transcription initiation sites (Inr), three RBP-J kappa sites, and two GATA recognition sites. Two cDNA isoforms, NOTCH4(L) and NOTCH4(S), were identified. Whereas the NOTCH4(S) isoform contains the entire coding sequence, the NOTCH4(L) isoform has two unspliced intronic sequences between exons 11 and 12 and exons 20 and 21 and a misspliced exon 6. Consistent with these results, two alternatively spliced isoforms of transcripts of approximately 9.3 and 6.7 kb were detected by Northern blot analysis. The predicted amino acid sequence of the NOTCH4 protein based on the NOTCH4(S) cDNA sequence contains 2003 amino acids and includes the predominant motifs of the Notch family: 29 epidermal growth factor (EGF)-like repeats, 3 Notch/lin-12 repeats, a transmembrane region, 6 cdc10/Ankyrin repeats, and a PEST domain. (C) 1998 Academic Press.