New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

European Journal of Human Genetics

Volumn 23, Issue 10, 2015, Pages 1334-1340

  Domingo, Aloysius ^a,b   Westenberger, Ana ^a   Lee, Lillian V ^b   Brænne, Ingrid ^a   Liu, Tian ^c,d   Vater, Inga ^e   Rosales, Raymond ^b,f   Jamora, Roland Dominic ^b,g   Pasco, Paul Matthew ^b,g   Cutiongco Dela Paz, Eva Maria ^b,h   Freimann, Karen ^a   Schmidt, Thomas G P M ^a   Dressler, Dirk ⁱ   Kaiser, Frank J ^a   Bertram, Lars ^c,j   Erdmann, Jeanette ^e   Lohmann, Katja ^a   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b Philippine Children's Medical Center   (Philippines)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d MAX PLANCK INSTITUTE FOR HUMAN DEVELOPMENT   (Germany)

^e UNIVERSITY OF KIEL   (Germany)

^f UNIVERSITY OF SANTO TOMAS   (Philippines)

^g UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

^h UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

ⁱ HANNOVER MEDICAL SCHOOL   (Germany)

^j IMPERIAL COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; CPG ISLAND; FEMALE; GENE INSERTION SEQUENCE; GENE LOCUS; GENETIC CODE; GENETIC DISORDER; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME; X LINKED RECESSIVE DYSTONIA PARKINSONISM; CHROMOSOMAL MAPPING; DYSTONIC DISORDER; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; PHILIPPINES; PROCEDURES; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; DYSTONIC DISORDERS; GENETIC DISEASES, X-LINKED; GENETIC LINKAGE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; PHILIPPINES; POLYMORPHISM, GENETIC;

EID: 84944153909     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.292     Document Type: Article

References (25)

1. Klein C: Genetics in dystonia. Parkinsonism Relat Disord 2014; 20(Suppl 1): S137-S142.
2. Lee LV, Rivera C, Teleg RA et al: The unique phenomenology of sex-linked dystoniaparkinsonism (XDP, DYT3, "Lubag"). Int J Neurosci 2011; 121(Suppl): 3-11.
3. Németh AH, Nolte D, Dunne E et al: Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). Genomics 1999; 60: 320-329.
4. Peters U, Haberhausen G, Kostrzewa M: PFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. Hum Genet 1997; 100: 569-572.
5. Nolte D, Ramser J, Niemann S, Lehrach H, Sudbrak R, Müller U: ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in Xq13.1. Neurogenetics 2001; 3: 207-213.
6. Deng H, Le WD: Joseph Jankovic: Genetic study of an American family with DYT3 dystonia (lubag). Neurosci Lett 2008; 448: 180-183.
7. Nolte D, Niemann S, Müller U: Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Nat Acad Sci USA 2003; 100: 10347-10352.
8. Makino S, Kaji R, Ando S et al: Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 2007; 80: 393-406.
9. Herzfeld T, Nolte D, Grznarova M, Hofmann A, Schultze JL, Müller U: X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Hum Mol Genet 2013; 22: 941-951.
10. Müller U, Herzfeld T, Nolte D: The TAF1/DYT3 multiple transcript system in X-linked dystonia parkinsonism (letters to the editor). Am J Hum Genet 2007; 81: 415-417.
11. Tamiya G, Makino S, Kaji R: TAF1 as the most plausible disease gene for XDP/DYT3 (letters to the editor). Am J Hum Genet 2007; 81: 417-418.
12. Sako W, Morigaki R, Kaji R et al: Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystonia. Neuroscience 2011; 189: 100-107.
13. Domingo A, Lee LV, Brüggemann N et al: Case report of a female with X-linked recessive dystonia-parkinsonism: a clue to the epidemiology of parkinsonism in Filipino women? JAMA Neurol 2014; 71: 1177-1180.
14. Westenberger A, Rosales R, Heinitz S et al: X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. Mov Disord 2013; 28: 675-678.
15. Kawarai T, Pasco PMD, Teleg RA et al: Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism. Neurogenetics 2013; 14: 167-169.
16. Wang K, Li M, Hakonarson H: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nuc Acids Res 2010; 38: e164.
17. Boyle AP, Hong EL, Hariharan M et al: Annotation of functional variation in personal genomes using RegulomeDB. Genome Res 2012; 22: 1790-1797.
18. Scott WH: Cracks in the parchment curtain and other essays in Philippine history. Manila, Quezon City: New Day Publishers, 1982. 300 pp.
19. Drmanac R, Sparks AB, Callow MJ et al: Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 2010; 327: 78-81.
20. Wong LP, Ong RTH, Poh WT et al: Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet 2013; 92: 52-66.
21. Subramony SH, Advincula J, Perlman S et al: Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. Cerebellum 2013; 12: 932-936.
22. Saunders-Pullman R, Fuchs T et al: Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord 2014; 29: 812-818.
23. Mazars R, Gonzalez-de-Peredo A, Cayrol C et al: The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. J Biol Chem 2010; 285: 13364-13371.
24. Levy S, Sutton G, Ng P et al: The diploid genome sequence of an individual human. PLoS Biol 2007; 5: e254.
25. Villard L, Briault S, Am Lossi et al: Two unrelated patients with inversions of the X-chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1. J Med Genet 1999; 36: 754-758.