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人类HBNF基因的基因组结构及一种HBNF变异蛋白作为剪接突变体的特征分析。

Genomic organization of the human HBNF gene and characterization of an HBNF variant protein as a splice mutant.

作者信息

Kretschmer P J, Fairhurst J L, Hulmes J D, Popjes M L, Böhlen P, Kovesdi I

机构信息

Molecular Biology Research Section, American Cyanamid Company, Lederle Laboratories, Pearl River, New York 10965.

出版信息

Biochem Biophys Res Commun. 1993 Apr 30;192(2):420-9. doi: 10.1006/bbrc.1993.1432.

DOI:10.1006/bbrc.1993.1432
PMID:8484754
Abstract

The organization of the human heparin-binding neurite outgrowth promoting factor (HBNF) gene is presented. Based on Southern analysis and the isolation of genomic DNA clones from a lambda phage library, the minimum size of the gene is 42 kb. Sequences comprising the HBNF mRNA are contained in five exons which account for the 1650 nt mRNA size observed by northern analysis. From the structure of the gene it is predicted that a variant human HBNF cDNA with a three basepair deletion is a result of alternative splicing at the acceptor site of exon 5. Evidence is presented that indicates the existence of a variant HBNF protein, des-Ala119-HBNF, in bovine brain which has a corresponding amino acid deletion. This alternate form comprises approximately 20% of the total HBNF protein present in bovine brain.

摘要

本文介绍了人类肝素结合神经突生长促进因子(HBNF)基因的结构。基于Southern分析以及从λ噬菌体文库中分离出基因组DNA克隆,该基因的最小大小为42kb。构成HBNF mRNA的序列包含在五个外显子中,这五个外显子构成了Northern分析中观察到的1650nt的mRNA大小。从该基因的结构预测,一种具有三个碱基对缺失的变异型人类HBNF cDNA是外显子5受体位点选择性剪接的结果。有证据表明,在牛脑中存在一种变异型HBNF蛋白,即去丙氨酸119 - HBNF,其具有相应的氨基酸缺失。这种替代形式约占牛脑中HBNF总蛋白的20%。

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