机构：[1]Chinese Acad Sci, Inst Genet & Dev Biol, State Key Lab Mol & Dev Biol, Beijing 100101, Peoples R China[2]Chinese Acad Sci, Grad Sch, Beijing 100039, Peoples R China[3]NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA[4]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, Beijing 100730, Peoples R China临床科室皮肤性病科首都医科大学附属北京同仁医院首都医科大学附属同仁医院[5]Nanjing Univ, Model Anim Res Ctr, MOE Key Lab Model Anim Dis Study, Nanjing 210061, Jiangsu, Peoples R China
Biogenesis of lysosome-related organelles (LROs) complex-1 (BLOC-1) is an eight-subunit complex involved in lysosomal trafficking. Interacting proteins of these subunits expand the understanding of its biological functions. With the implementation of the naive Bayesian analysis, we found that a human uncharacterized 20 kDa coiled-coil KxDL protein, KXD1, is a BLOS1-interacting protein. In vitro binding assays confirmed the interaction between BLOS1 and KXD1. The mouse KXD1 homolog was widely expressed and absent in Kxd1 knockout (KO) mice. BLOS1 was apparently reduced in Kxd1-KO mice. Mild defects in the melanosomes of the retinal pigment epithelia and in the platelet dense granules of the Kxd1-KO mouse were observed, mimicking a mouse model of mild HermanskyPudlak syndrome that affects the biogenesis of LROs.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [31071252, 81101182, 30730049]; Ministry of Agriculture of PRC [2009ZX08009-158B]; Chinese Academy of SciencesChinese Academy of Sciences [KSCX2-EW-R-05]; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USAUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI); NATIONAL HUMAN GENOME RESEARCH INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [ZIAHG200322, ZIAHG000215] Funding Source: NIH RePORTER
第一作者机构：[1]Chinese Acad Sci, Inst Genet & Dev Biol, State Key Lab Mol & Dev Biol, Beijing 100101, Peoples R China[2]Chinese Acad Sci, Grad Sch, Beijing 100039, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Yang Qing,He Xin,Yang Lin,et al.The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles[J].TRAFFIC.2012,13(8):1160-1169.doi:10.1111/j.1600-0854.2012.01375.x.
APA：
Yang, Qing,He, Xin,Yang, Lin,Zhou, Zhiyong,Cullinane, Andrew R....&Li, Wei.(2012).The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles.TRAFFIC,13,(8)
MLA：
Yang, Qing,et al."The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles".TRAFFIC 13..8(2012):1160-1169
