Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Export

@article{citeulike:5905366, abstract = {Although the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Parkin gene, and recently a second gene, PARK6, involved in early-onset recessive parkinsonism was localized on chromosome 1p35-36. We identified a family segregating early-onset parkinsonism with multiple consanguinity loops in a genetically isolated population. Homozygosity mapping resulted in significant evidence for linkage on chromosome 1p36. Multipoint linkage analysis using MAPMAKER-HOMOZ generated a maximum LOD-score of 4.3, with nine markers spanning a disease haplotype of 16 cM. On the basis of several recombination events, the region defining the disease haplotype can be clearly separated, by > or =25 cM, from the more centromeric PARK6 locus on chromosome 1p35-36. Therefore, we conclude that we have identified on chromosome 1 a second locus, PARK7, involved in autosomal recessive, early-onset parkinsonism.}, author = {van Duijn, C. M. and Dekker, M. C. and Bonifati, V. and Galjaard, R. J. and Houwing-Duistermaat, J. J. and Snijders, P. J. and Testers, L. and Breedveld, G. J. and Horstink, M. and Sandkuijl, L. A. and van Swieten, J. C. and Oostra, B. A. and Heutink, P.}, citeulike-article-id = {5905366}, citeulike-linkout-0 = {http://dx.doi.org/10.1086/322996}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/11462174}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=11462174}, doi = {10.1086/322996}, issn = {0002-9297}, journal = {American journal of human genetics}, keywords = {dj-1, genetics, park7, parkinsons, yopd}, month = {September}, number = {3}, pages = {629--634}, posted-at = {2009-10-07 14:12:00}, priority = {2}, title = {Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.}, url = {http://dx.doi.org/10.1086/322996}, volume = {69}, year = {2001} }

TY - JOUR ID - citeulike:5905366 L3 - citeulike-article-id:5905366 N2 - Although the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Parkin gene, and recently a second gene, PARK6, involved in early-onset recessive parkinsonism was localized on chromosome 1p35-36. We identified a family segregating early-onset parkinsonism with multiple consanguinity loops in a genetically isolated population. Homozygosity mapping resulted in significant evidence for linkage on chromosome 1p36. Multipoint linkage analysis using MAPMAKER-HOMOZ generated a maximum LOD-score of 4.3, with nine markers spanning a disease haplotype of 16 cM. On the basis of several recombination events, the region defining the disease haplotype can be clearly separated, by > or =25 cM, from the more centromeric PARK6 locus on chromosome 1p35-36. Therefore, we conclude that we have identified on chromosome 1 a second locus, PARK7, involved in autosomal recessive, early-onset parkinsonism. IS - 3 JF - American journal of human genetics SN - 0002-9297 EP - 634 TI - Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. VL - 69 SP - 629 KW - dj-1 KW - genetics KW - park7 KW - parkinsons KW - yopd AU - van Duijn, CM AU - Dekker, MC AU - Bonifati, V AU - Galjaard, RJ AU - Houwing-Duistermaat, JJ AU - Snijders, PJ AU - Testers, L AU - Breedveld, GJ AU - Horstink, M AU - Sandkuijl, LA AU - van Swieten, JC AU - Oostra, BA AU - Heutink, P PY - 2001/09// UR - http://dx.doi.org/10.1086/322996 ER -