Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene

Journal of Medical Genetics

Volumn 35, Issue 9, 1998, Pages 713-716

  Delatycki, M B ^a   Paris, D ^a   Gardner, R J M ^a   Forshaw, K ^a   Nicholson, G A ^b   Nassif, N ^b   Williamson, R ^a   Forrest, S M ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Friedreich ataxia; Premutation; Sperm; Trinucleotide repeats

Indexed keywords

ALLELE; ARTICLE; DNA DETERMINATION; FEMALE; FRIEDREICH ATAXIA; GENE; GENE MUTATION; HUMAN; INTRON; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MEIOSIS; MITOSIS; PRIORITY JOURNAL; SPERM; TRINUCLEOTIDE REPEAT;

ATAXIA;

EID: 0031816520     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.9.713     Document Type: Article

References (27)

1. Filla A, De Michele G, Marconi R, et al. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 1992;239:351-3.
2. Epplen C, Epplen J, Frank G, Miterski B, Santos E, Schols L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997;99:834-6.
3. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981; 104:589-620.
4. Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988;334:248-50.
5. Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7.
6. Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997;16:345-51.
7. Priller J, Scherzer CR, Faber PW, MacDonald ME, Young AB. Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann Neural 1997;42:265-9.
8. Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276:1709-12.
9. Wilson R, Roof D. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997;16:352-7.
10. Foury F, Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett 1997;411:373-7.
11. Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59: 554-60.
12. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-75.
13. Montermini L, Andermann E, Labuda M, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997;6:1261-6.
14. Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutation. Proc Natl Acad Sci USA 1997;94: 7452-7.
15. Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-82.
16. Bidichandani SI, Ashizawa T, Patel PI. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet 1997;60:1251-6.
17. Rosenberg RN. DNA-triplet repeats and neurologic disease. N Engl J Med 1996;335:1222-4.
18. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
19. Gusella JF, MacDonald ME. Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med 1996;47:201-9.
20. Jeffreys AJ, Tamaki K, MacLeod A, Monckton DG, Neil DL, Armour JA. Complex gene conversion events in germ-line mutation at human minisatellites. Nat Genet 1994;6: 136-45.
21. Pianese L, Cavalcanti F, De Michele G, et al. The effect of parental gender on the GAA dynamic mutation in the FRDA gene. Am J Hum Genet 1997;60:460-3.
22. Monros E, Molto MD, Martinez F, et al. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 1997;61:101-10.
23. Reyniers E, Vits L, De Boulle K, et al. The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet 1993;4:143-6.
24. Yu S, Mulley J, Loesch D, et al. Fragile-X syndrome: unique genetics of the heritable unstable element. Am J Hum Genet 1992;50:968-80.
25. Jansen G, Willems P, Coerwinkel M, et al. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575-85.
26. Mouton C, Vincent MC, Biancalana V, Mandel JL. Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. Hum Mol Genet 1997;6: 971-9.
27. Massari A, Gennarelli M, Menegazzo E, et al. Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm. J Neurol 1995;242:379-83.