Volume 44, Issue 4, Pages (November 2004)

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Volume 44, Issue 4, Pages 595-600 (November 2004) Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease Coro Paisán-Ruı́z, Shushant Jain, E.Whitney Evans, William P. Gilks, Javier Simón, Marcel van der Brug, Adolfo López de Munain, Silvia Aparicio, Angel Martı́nez Gil, Naheed Khan, Janel Johnson, Javier Ruiz Martinez, David Nicholl, Itxaso Marti Carrera, Amets Saénz Peňa, Rohan de Silva, Andrew Lees, José Félix Martı́-Massó, Jordi Pérez-Tur, Nick W. Wood, Andrew B. Singleton Neuron Volume 44, Issue 4, Pages 595-600 (November 2004) DOI: 10.1016/j.neuron.2004.10.023

Figure 1 Ideogram of PARK8 Candidate Region (A) Ideogram of chromosome 12 showing the linked areas defined by Funayama et al. in 2002, the refined area reported here, and the region shared by all four Basque families. (B) Schematic representation of the known genes and predicted transcripts in the area shared by the Basque families. In red, the putative transcript where mutations in PARK8-linked families were identified. Neuron 2004 44, 595-600DOI: (10.1016/j.neuron.2004.10.023)

Figure 2 Mutations in Dardarin that Are Linked to PARK8 PD (A) Schematic of dardarin structure. (B) Mutations R1396G and Y1654C are indicated by black arrowheads. Human dardarin protein aligned with other orthologs from rat (XP_235581), mouse (BAC28700), chicken (XP_425418), and tetraodon (CAG05593). Amino acid number is based on the human protein. (C) Chromatograms showing mutant sequence (top) and wild-type sequence (bottom) of R1396G (left) and Y1654C (right). Neuron 2004 44, 595-600DOI: (10.1016/j.neuron.2004.10.023)

Figure 3 PARK8-Linked Pedigrees UGM003, UGM004, UGM005, and UGM006 originate from the Basque region; kindred PL was collected in the United Kingdom. WT indicates a mutation-negative subject, M indicates a subject carrying a heterozygous mutation (R1396G UGM003, UGM004, UGM005, and UGM006; Y1654C Family PL). Gender has been masked to protect the anonymity of the families. Currently unaffected mutation carriers have not been shown; in all instances these individuals have not yet reached the maximum age at onset observed. Neuron 2004 44, 595-600DOI: (10.1016/j.neuron.2004.10.023)

Figure 4 Northern Blot Analysis of Dardarin Multiple tissue Northern blots (BD Biosciences) probed for dardarin with a 1 kb probe amplified across the two exons that contain mutations. Blot A: lane 1, heart; lane 2, brain (whole); lane 3, placenta; lane 4, lung; lane 5, liver; lane 6, skeletal muscle; lane 7, kidney; lane 8, pancreas. Blot B is a multiregion brain blot: lane 1, cerebellum; lane 2, cerebral cortex; lane 3, medulla; lane 4, spinal cord; lane 5, occipital pole; lane 6, frontal lobe; lane 7, temporal lobe; lane 8, putamen. A major transcript of 9 kb was identified (black arrowhead) in addition to minor smaller transcripts. Neuron 2004 44, 595-600DOI: (10.1016/j.neuron.2004.10.023)

Figure 5 Predicted Transcript Based on Alignment of Multiple Human Multiexon ESTs and Fully Sequenced Human cDNA Clones The most informative overlapping clones and ESTs are shown. Tiled blue lines represent overlapping fragments successfully amplified from cDNA isolated from M17 neuroblastoma cells and from a brain marathon-ready cDNA library (BD Biosciences). Neuron 2004 44, 595-600DOI: (10.1016/j.neuron.2004.10.023)