The Evolution of Genetic Variability at the LRRK2 Locus

被引：1
|
作者：
Guenther, Dylan T. [1 ]
Follett, Jordan [1 ]
Amouri, Rim [2 ]
Ben Sassi, Samia [2 ]
Hentati, Faycel [2 ]
Farrer, Matthew J. [1 ]
机构：
[1] Univ Florida, Dept Neurol, Gainesville, FL 32610 USA
[2] Mongi Ben Hamida Natl Inst Neurol, Ave Rabta, Tunis 1007, Tunisia
来源：
GENES | 2024年 / 15卷 / 07期
关键词：
LRRK2; Parkinson's disease; evolution; PARKINSONS-DISEASE; SUSCEPTIBILITY LOCI; COMMON FOUNDER; KINASE LRRK2; G2019S; ASSOCIATION; GENOME; FAMILIES; METAANALYSIS; MUTATIONS;
D O I：
10.3390/genes15070878
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Leucine-rich repeat kinase 2 (LRRK2) c.6055G>A (p.G2019S) is a frequent cause of Parkinson's disease (PD), accounting for >30% of Tunisian Arab-Berber patients. LRRK2 is widely expressed in the immune system and its kinase activity confers a survival advantage against infection in animal models. Here, we assess haplotype variability in cis and in trans of the LRRK2 c.6055G>A mutation, define the age of the pathogenic allele, explore its relationship to the age of disease onset (AOO), and provide evidence for its positive selection.
引用
收藏
页数：10
相关论文
共 50 条
  • [1] Investigating LRRK2 and GBA genetic variability in underrepresented populations
    Paisan-Ruiz, C.
    Katsnelson, V.
    Urval, N.
    Ortega, R.
    Debebe, A.
    Peter, I.
    Bressman, S.
    Saunders-Pullman, R.
    MOVEMENT DISORDERS, 2021, 36 : S318 - S318
  • [2] Understanding the role of genetic variability in LRRK2 in Indian population
    Kishore, Asha
    Sreelatha, Ashwin Ashok Kumar
    Sturm, Marc
    von-Zweydorf, Felix
    Pihlstrom, Lasse
    Raimondi, Francesco
    Russell, Rob
    Lichtner, Peter
    Banerjee, Moinak
    Krishnan, Syam
    Rajan, Roopa
    Puthenveedu, Divya Kalikavil
    Chung, Sun Ju
    Bauer, Peter
    Riess, Olaf
    Gloeckner, Christian Johannes
    Kruger, Rejko
    Gasser, Thomas
    Sharma, Manu
    MOVEMENT DISORDERS, 2019, 34 (04) : 496 - 505
  • [3] Searching for new genetic interactors of LRRK2
    Venderova, K.
    Kabbach, S.
    Macrogliese, P.
    Abdel-Messih, E.
    Li, G.
    Abuaish, S.
    Haque, E.
    Slack, R.
    Park, D. S.
    MOVEMENT DISORDERS, 2011, 26 : S29 - S30
  • [4] LRRK2
    Farrer, M.
    MOVEMENT DISORDERS, 2010, 25 : S579 - S579
  • [5] LRRK2 Kinase Activity Is Dependent on LRRK2 GTP Binding Capacity but Independent of LRRK2 GTP Binding
    Taymans, Jean-Marc
    Vancraenenbroeck, Renee
    Ollikainen, Petri
    Beilina, Alexandra
    Lobbestael, Evy
    De Maeyer, Marc
    Baekelandt, Veerle
    Cookson, Mark R.
    PLOS ONE, 2011, 6 (08):
  • [6] Evaluating LRRK2 Genetic Variants with Unclear Pathogenicity
    Refai, Fathima Shaffra
    Ng, Shin Hui
    Tan, Eng-King
    BIOMED RESEARCH INTERNATIONAL, 2015, 2015
  • [7] Expression Analysis of Lrrk1, Lrrk2 and Lrrk2 Splice Variants in Mice
    Giesert, Florian
    Hofmann, Andreas
    Buerger, Alexander
    Zerle, Julia
    Kloos, Karina
    Hafen, Ulrich
    Ernst, Luise
    Zhang, Jingzhong
    Vogt-Weisenhorn, Daniela Maria
    Wurst, Wolfgang
    PLOS ONE, 2013, 8 (05):
  • [8] LRRK2 and neurodegeneration
    Santpere, Gabriel
    Ferrer, Isidre
    ACTA NEUROPATHOLOGICA, 2009, 117 (03) : 227 - 246
  • [9] LRRK2 and neurodegeneration
    Gabriel Santpere
    Isidre Ferrer
    Acta Neuropathologica, 2009, 117
  • [10] Lrrk2 in the limelight!
    Farrer, Matthew J.
    NEUROLOGY, 2007, 69 (18) : 1732 - 1733
12345