A Brief History of APOL1: A Gene Evolving

被引:19
作者
Friedman, David J. [1 ,2 ]
机构
[1] Beth Israel Deaconess Med Ctr, Dept Med, 330 Brookline Ave, Boston, MA 02215 USA
[2] Beth Israel Deaconess Med Ctr, Ctr Vasc Biol Res, 330 Brookline Ave, Boston, MA 02215 USA
基金
美国国家卫生研究院;
关键词
APOL1; evolution; kidney disease; natural selection; genetic; trypanosome; TRYPANOSOME LYTIC FACTOR; BRUCEI-GAMBIENSE; INNATE IMMUNITY; RISK VARIANTS; HUMAN SERUM; RESISTANCE; NEPHROPATHY; ASSOCIATION; MECHANISM; RELEVANCE;
D O I
10.1016/j.semnephrol.2017.07.003
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
APOL1 kidney risk variants lead to high rates of kidney disease in people of recent African ancestry. These risk variants are very common and confer a large increase in risk of kidney disease. This unusual combination of high frequency and large effect size occurs because the risk variants also appear to have beneficial properties. The risk variants show enhanced protective effects against certain pathogens, particularly the trypanosomes that cause African sleeping sickness. Here, we consider the origins and evolution of the primate-only APOL1 gene. Human genetics, mouse models, biochemistry, and comparative genomics suggest that APOL1 is an innate immunity gene and that the risk variants have the potential for heightened immunity that comes at the cost of toxicity to the kidneys. A better understanding of the evolution of APOL1 may help illuminate how APOL1 causes kidney disease in individuals who harbor the high-risk variants. (C) 2017 Published by Elsevier Inc.
引用
收藏
页码:508 / 513
页数:6
相关论文
共 41 条
[11]  
KAGERUKA P, 1991, ANN SOC BELG MED TR, V71, P39
[12]   APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans [J].
Kasembeli, Alex N. ;
Duarte, Raquel ;
Ramsay, Michele ;
Mosiane, Pulane ;
Dickens, Caroline ;
Dix-Peek, Therese ;
Limou, Sophie ;
Sezgin, Efe ;
Nelson, George W. ;
Fogo, Agnes B. ;
Goetsch, Stewart ;
Kopp, Jeffrey B. ;
Winkler, Cheryl A. ;
Naicker, Saraladevi .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2015, 26 (11) :2882-2890
[13]   Mechanism of Trypanosoma brucei gambiense (group 1) resistance to human trypanosome lytic factor [J].
Kieft, Rudo ;
Capewell, Paul ;
Turner, C. Michael R. ;
Veitch, Nicola J. ;
MacLeod, Annette ;
Hajduk, Stephen .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (37) :16137-16141
[14]  
Ko WY, 2013, AM J HUM GENET, V93, P54, DOI 10.1016/j.ajhg.2013.05.014
[15]   APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy [J].
Kopp, Jeffrey B. ;
Nelson, George W. ;
Sampath, Karmini ;
Johnson, Randall C. ;
Genovese, Giulio ;
An, Ping ;
Friedman, David ;
Briggs, William ;
Dart, Richard ;
Korbet, Stephen ;
Mokrzycki, Michele H. ;
Kimmel, Paul L. ;
Limou, Sophie ;
Ahuja, Tejinder S. ;
Berns, Jeffrey S. ;
Fryc, Justyna ;
Simon, Eric E. ;
Smith, Michael C. ;
Trachtman, Howard ;
Michel, Donna M. ;
Schelling, Jeffrey R. ;
Vlahov, David ;
Pollak, Martin ;
Winkler, Cheryl A. .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 22 (11) :2129-2137
[16]   Vascular smooth muscle cells contribute to APOL1-induced podocyte injury in HIV milieu [J].
Lan, Xiqian ;
Wen, Hongxiu ;
Saleem, Moin A. ;
Mikulak, Joanna ;
Malhotra, Ashwani ;
Skorecki, Karl ;
Singhal, Pravin C. .
EXPERIMENTAL AND MOLECULAR PATHOLOGY, 2015, 98 (03) :491-501
[17]   APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability [J].
Lan, Xiqian ;
Jhaveri, Aakash ;
Cheng, Kang ;
Wen, Hongxiu ;
Saleem, Moin A. ;
Mathieson, Peter W. ;
Mikulak, Joanna ;
Aviram, Sharon ;
Malhotra, Ashwani ;
Skorecki, Karl ;
Singhal, Pravin C. .
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 2014, 307 (03) :F326-F336
[18]   Characterization of primate trypanosome lytic factors [J].
Lugli, EB ;
Pouliot, M ;
Portela, MDM ;
Loomis, MR ;
Raper, J .
MOLECULAR AND BIOCHEMICAL PARASITOLOGY, 2004, 138 (01) :9-20
[19]   Distinct roles of apolipoprotein components within the trypanosome lytic factor complex revealed in a novel transgenic mouse model [J].
Molina-Portela, Maria Pilar ;
Samanovic, Marie ;
Raper, Jayne .
JOURNAL OF EXPERIMENTAL MEDICINE, 2008, 205 (08) :1721-1728
[20]   Trypanosome lytic factor, a subclass of high-density lipoprotein, forms cation-selective pores in membranes [J].
Molina-Portela, MD ;
Lugli, EB ;
Recio-Pinto, E ;
Raper, J .
MOLECULAR AND BIOCHEMICAL PARASITOLOGY, 2005, 144 (02) :218-226