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β-1,3-半乳糖基-N-乙酰半乳糖胺/β-1,4-葡萄糖胺α2,3-唾液酸转移酶的基因组组织与染色体定位

Genomic organization and chromosomal mapping of the Gal beta 1,3GalNAc/Gal beta 1,4GlcNAc alpha 2,3-sialyltransferase.

作者信息

Kitagawa H, Mattei M G, Paulson J C

机构信息

Cytel Corporation, San Diego, California 92121, USA.

出版信息

J Biol Chem. 1996 Jan 12;271(2):931-8. doi: 10.1074/jbc.271.2.931.

Abstract

In this report we describe the chromosome mapping and genomic organization of the human Gal beta 1,3GalNAc/Gal beta 1,4GlcNAc alpha 2,3-sialyltransferase gene. The gene is localized to human chromosome 11(q23-q24) by in situ hybridization of metaphase chromosomes. It spans more than 25 kilobases of human genomic DNA and is distributed over 14 exons that range in size from 61 to 679 base pairs. Previous characterization of cDNAs encoding the Gal beta 1,3GalNAc/Gal beta 1,4GlcNAc alpha 2,3-sialyltransferase revealed that the gene produces at least three transcripts in human placenta, which code for identical protein sequences except at the 5' ends (Kitagawa, H., and Paulson, J. C. (1994a) J. Biol. Chem. 269, 1394-1401). Repeated screening for clones that contain the 5' end of the cDNA has identified two additional distinct mRNAs that are expressed in human placenta. Comparison of the genomic DNA sequence with that of the five different mRNAs indicates that these transcripts are produced by a combination of alternative splicing and alternative promoter utilization. Northern analysis indicated that one of them is specifically expressed in placenta, testis, and ovary, indicating that its expression is independently regulated from the others.

摘要

在本报告中,我们描述了人类β1,3-半乳糖基-N-乙酰半乳糖胺/β1,4-半乳糖基-N-乙酰葡糖胺α2,3-唾液酸转移酶基因的染色体定位和基因组结构。通过中期染色体原位杂交,该基因定位于人类染色体11(q23-q24)。它跨越超过25千碱基对的人类基因组DNA,分布在14个外显子上,大小从61到679个碱基对不等。先前对编码β1,3-半乳糖基-N-乙酰半乳糖胺/β1,4-半乳糖基-N-乙酰葡糖胺α2,3-唾液酸转移酶的cDNA的表征显示,该基因在人胎盘中产生至少三种转录本,除了5'端外,它们编码相同的蛋白质序列(北川,H.,和保尔森,J.C.(1994a)《生物化学杂志》269,1394-1401)。对包含cDNA 5'端的克隆进行反复筛选,鉴定出另外两种在人胎盘中表达的不同mRNA。基因组DNA序列与五种不同mRNA序列的比较表明,这些转录本是由可变剪接和可变启动子利用组合产生的。Northern分析表明,其中一种在胎盘、睾丸和卵巢中特异性表达,表明其表达与其他转录本独立调控。

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