A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
作者信息
Netter Petra, Chan Sanny K, Banerjee Pinaki P, Monaco-Shawver Linda, Noroski Lenora M, Hanson Imelda C, Forbes Lisa R, Mace Emily M, Chinen Javier, Gaspar H Bobby, Sleiman Patrick, Hakonarson Hakon, Klein Christoph, Ehlayel Mohammad S, Orange Jordan S
机构信息
Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
National Jewish Health, Denver, Colo.
出版信息
J Allergy Clin Immunol. 2016 Aug;138(2):599-601.e3. doi: 10.1016/j.jaci.2015.12.1337. Epub 2016 Mar 23.
Abstract
摘要
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A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.一种新的Rab27a突变与黑色素亲和蛋白结合，但不与Munc13-4结合，导致免疫缺陷但无白化病。
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本文引用的文献
1
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.患有格里塞利综合征且色素沉着正常的患者可识别出选择性破坏MUNC13-4结合的RAB27A突变。
J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039. Epub 2014 Oct 11.
2
Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity.导致人类免疫缺陷的突变定义了自然杀伤细胞细胞毒性中的 CD16。
J Clin Invest. 2012 Oct;122(10):3769-80. doi: 10.1172/JCI64837. Epub 2012 Sep 24.
3
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4.分泌性细胞毒性颗粒的成熟和胞吐作用需要效应蛋白hMunc13-4。
Nat Immunol. 2007 Mar;8(3):257-67. doi: 10.1038/ni1431. Epub 2007 Jan 21.
4
Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.Munc13-4是rab27a的效应蛋白，并控制造血细胞中溶酶体的分泌。
Mol Biol Cell. 2005 Feb;16(2):731-41. doi: 10.1091/mbc.e04-10-0923. Epub 2004 Nov 17.
5
A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport.Rab27结合蛋白家族。黑色素亲和蛋白在黑素小体运输中连接Rab27a和肌球蛋白Va的功能。
J Biol Chem. 2002 Jul 12;277(28):25423-30. doi: 10.1074/jbc.M202574200. Epub 2002 Apr 29.
6
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.RAB27A基因的突变会导致与噬血细胞综合征相关的格里塞利综合征。
Nat Genet. 2000 Jun;25(2):173-6. doi: 10.1038/76024.
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