PD Guide
PARK11
The PARK11 locus was initially linked to PD through family-based linkage studies (Pankratz et al., 2003) although has not been confirmed widely (Prestel et al., 2005). A later report nominated mutations in the gene for Grb10-interacting GYF protein-2 (GIGYF2) as a possible explanation for the PARK11 locus (Lautier et al., 2008). However, this has been contradicted by subsequent analyses (Nichols et al., 2009), leaving the status of PARK11 and its candidate causal gene unclear.
Reference:
Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, et al. Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet. 2003;72(4):1053-7.
Prestel J, Sharma M, Leitner P, Zimprich A, Vaughan JR, Dürr A, et al. PARK11 is not linked with Parkinson's disease in European families. Eur J Hum Genet. 2005;13(2):193-7.
Lautier C, Goldwurm S, Dürr A, Giovannone B, Tsiaras WG, Pezzoli G, et al. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet. 2008;82(4):822-33.
Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, et al. Variation in GIGYF2 is not associated with Parkinson disease. Neurology. 2009;72(22):1886-92.
Responses:
Reference:
Lautier C, Goldwurm S, Dürr A, Giovannone B, Tsiaras WG, Pezzoli G, et al. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet. 2008;82(4):822-33.
Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, et al. Variation in GIGYF2 is not associated with Parkinson disease. Neurology. 2009;72(22):1886-92.
Vilariño-Güell C, Ross OA, Soto AI, Farrer MJ, Haugarvoll K, Aasly JO, et al. Reported mutations in GIGYF2 are not a common cause of Parkinson's disease. Mov Disord. 2009;24(4):619-20.
Bonetti M, Ferraris A, Petracca M, Bentivoglio A, Dallapiccola B, Valente E. GIGYF2 variants are not associated with Parkinson's disease in Italy. Mov Disord. 2009;24(12):1867-8; author reply 1868-9.