Herberg J A, Beck S, Trowsdale J
Human Immunogenetics Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London, U.K.
J Mol Biol. 1998 Apr 10;277(4):839-57. doi: 10.1006/jmbi.1998.1637.
TAPASIN, a gene recently shown to be required for antigen presentation through MHC class I molecules, is located 180 kbp centromeric of HLA-DP in a region linked to several diseases, and associated with altered developmental phenotypes in the mouse. We present the genomic analysis of a 70 kbp gene-dense segment flanking the TAPASIN locus, including sequence, structure and preliminary characterisation of seven additional genes. BING1 is a Zn finger gene containing a POZ motif. BING3 is similar to myosin regulatory light chain. BING4 shows homologies only to hypothetical yeast and Caenorhabditis elegans proteins. BING5 is found within an intron of BING4 on the complementary strand, and encodes a molecule with no homologies to database proteins. Another three genes were identified whose full sequence was not previously known; namely, RGL2, DAXX (BING2) and HKE2. RGL2 encodes an effector of Ras, homologous to the mouse RalGDS protein, Rlf. DAXX encodes an effector of Fas that stimulates apoptosis through the Jun kinase (JNK) pathway. The location of DAXX is of interest given the linkage of autoimmune disease to the MHC and to apoptosis.
TAPASIN是一种最近发现通过MHC I类分子进行抗原呈递所必需的基因,位于与多种疾病相关区域中HLA - DP着丝粒方向180千碱基对处,并且与小鼠发育表型改变有关。我们展示了TAPASIN基因座侧翼一个70千碱基对的基因密集区段的基因组分析,包括序列、结构以及另外七个基因的初步特征。BING1是一个含有POZ基序的锌指基因。BING3与肌球蛋白调节轻链相似。BING4仅与假定的酵母和秀丽隐杆线虫蛋白具有同源性。BING5在互补链上位于BING4的一个内含子内,编码一种与数据库蛋白无同源性的分子。另外鉴定出三个其完整序列以前未知的基因,即RGL2、DAXX(BING2)和HKE2。RGL2编码一种Ras效应蛋白,与小鼠RalGDS蛋白Rlf同源。DAXX编码一种Fas效应蛋白,通过Jun激酶(JNK)途径刺激细胞凋亡。鉴于自身免疫性疾病与MHC以及细胞凋亡的关联,DAXX的位置令人关注。