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位于人类主要组织相容性复合体II类区域内的第二个ABC转运蛋白基因中的多态性。

Polymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complex.

作者信息

Powis S H, Mockridge I, Kelly A, Kerr L A, Glynne R, Gileadi U, Beck S, Trowsdale J

机构信息

Imperial Cancer Research Fund Laboratories, Lincoln's Inn Fields, London, United Kingdom.

出版信息

Proc Natl Acad Sci U S A. 1992 Feb 15;89(4):1463-7. doi: 10.1073/pnas.89.4.1463.

Abstract

Recent studies have identified genes within the major histocompatibility complex (MHC) that may play a role in presentation of antigenic peptides to T cells. We have previously described RING4, a gene within the human MHC class II region that has sequence homology with members of the ABC ("ATP-binding cassette") transporter superfamily. We now report the nucleotide sequence of RING11, a second ABC transporter gene located approximately 7 kilobases telomeric to RING4, RING11 is gamma-interferon inducible, a property shared with other genes involved in antigen presentation. Comparison between the amino acid sequences of RING11 and RING4 reveals strong homology. We propose that they form a heterodimer that transports peptides from the cytoplasm into the endoplasmic reticulum. We have identified two RING11 alleles, which differ in the length of their derived protein sequence by 17 amino acids. The more common of these alleles is present in a Caucasoid population at a frequency of 79%.

摘要

最近的研究已经在主要组织相容性复合体(MHC)中鉴定出一些基因,这些基因可能在将抗原肽呈递给T细胞的过程中发挥作用。我们之前描述过RING4,它是人类MHC II类区域内的一个基因,与ABC(“ATP结合盒”)转运蛋白超家族的成员具有序列同源性。我们现在报告RING11的核苷酸序列,它是位于RING4端粒大约7千碱基处的第二个ABC转运蛋白基因,RING11可被γ干扰素诱导,这是与其他参与抗原呈递的基因共有的特性。RING11和RING4氨基酸序列的比较显示出很强的同源性。我们推测它们形成一个异二聚体,将肽从细胞质转运到内质网中。我们已经鉴定出两个RING11等位基因,它们推导的蛋白质序列长度相差17个氨基酸。这些等位基因中较常见的一个在白种人群体中的频率为79%。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/398b/48471/8d0bdea2e782/pnas01078-0324-a.jpg

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