Evidence that paternal expression of the ε-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

American Journal of Human Genetics

Volumn 71, Issue 6, 2002, Pages 1303-1311

  Müller, Birgitt ^a   Hedrich, Katja ^a   Kock, Norman ^a   Dragasevic, Natasa ^b   Svetel, Marina ^b   Garrels, Jennifer ^a   Landt, Olfert ^c   Nitschke, Matthias ^a   Pramstaller, Peter P ^d   Reik, Wolf ^e   Schwinger, Eberhard ^a   Sperner, Jürgen ^a   Ozelius, Laurie ^f   Kostic, Vladimir ^b   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF BELGRADE   (Serbia)

^c TIB MOLBIOL   (Germany)

^d CENTRAL HOSPITAL OF BOLZANO   (Italy)

^e BABRAHAM INSTITUTE   (United Kingdom)

^f ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; SARCOGLYCAN;

ALLELE; ARTICLE; CLINICAL ARTICLE; CPG ISLAND; DNA METHYLATION; DYSTONIA; GENE EXPRESSION; GENE MUTATION; HUMAN; MOTOR DYSFUNCTION; MUSCLE CONTRACTION; MYOCLONUS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION;

EID: 0036916437     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344531     Document Type: Article

References (15)

1. Asmus F, Zimprich A, Naumann M, Berg D, Bertram M, Ceballos-Baumann A, Pruszak-Seel R, Kabus C, Dichgans M, Fuchs S, Müller-Myhsok B, Gasser T (2001) Inherited myoclonus-dystonia syndrome: Narrowing the 7q21-q31 locus in German families. Ann Neurol 49:121-124
2. Frommer M, McDonald LE, Millar DS, Collis CM, Watt F, Grigg GW, Molloy PL, Paul CL (1992) A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc Natl Acad Sci USA 89:1827-1831
3. Gasser T (1998) Inherited myoclonus-dystonia syndrome. Adv Neurol 78:325-334
4. Grabowski M, Zimprich A, Lorenz-Depiereux B, Asmus F, Bauer M, Kalscheuer VM, Gasser T, Meitinger T, Strom TM (2002) Epsilon-sarcoglycan (SGCE), the gene mutated in myoclonus-dystonia syndrome, is imprinted. Paper presented at the 34th European Society of Human Genetics Conference, Strassbourg, France, May 25-28
5. Klein C (2002) Myoclonus and myoclonus-dystonias. In: Pulst S (ed) Genetics of Movement Disorders. Academic Press, San Diego, pp 449-469
6. Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, et al (2000) A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet 67:1314-1319
7. Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ, Bressman SB (1999) Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 46:794-798
8. Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD (1999) Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64:397-413
9. Piras G, El Kharroubi A, Kozlov S, Escalante-Alcalde D, Hernandez L, Copeland NG, Gilbert DJ, Jenkins NA, Stewart CL (2000) Zac1 (Lot1), a potential tumor suppressor gene, and the gene for ε-sarcoglycan are maternally imprinted genes: Identification by a subtractive screen of novel uni-parental fibroblast lines. Mol Cell Biol 20:3308-3315
10. Razin A, Cedar H (1994) DNA methylation and genomic imprinting. Cell 77:473-476
11. Reik W, Murrell A (2000) Genomic imprinting: Silence across the border. Nature 405:408-409
12. Reik W, Walter J (2001) Evolution of imprinting mechanisms: The battle of the sexes begins in the zygote. Nat Genet 27:255-256
13. Vidailhet M, Tassin J, Durif F, Nivelon-Chevallier A, Agid Y, Brice A, Dürr A (2001) A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q. Neurology 56:1213-1216
14. Viljoen D, Ramesar R (1992) Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome. J Med Genet 29:221-225
15. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T (2001) Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 29:66-69