The molecular genetics of human facioscapulohumeral muscular dystrophy and the myodystrophy mouse model

Current Opinion in Neurology

Volumn 9, Issue 5, 1996, Pages 394-399

  Mathews, Katherine D ^a,b,c   Mills, Kathleen A ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 8; CLINICAL FEATURE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE MUTATION; HUMAN; MOLECULAR GENETICS; MOUSE MUTANT; MUSCULAR DYSTROPHY; NONHUMAN; POSITION EFFECT; PROGRESSIVE MUSCULAR DYSTROPHY; SHORT SURVEY; TANDEM REPEAT;

EID: 0029958021     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199610000-00014     Document Type: Short Survey

References (35)

1. Wijmenga C, Frants RR, Brouwer OF, Moerer R Weber JL, Padberg GW: Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990, 336:651-653.
2. Sarfarazi M, Wijmenga C, Upadhyaya M, Weiffenbach B, Hyser C, Mathews K, Murray J, Gilbert J, Pericak-Vance M, Lunt P el al.: Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 1992, 51: 396-403.
3. Lunt PW, Jardine PE, Kock M, Maynard J, Osbom M, Williams M, Harper PS, Upadhyaya M: Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve 1995, 18(suppl 2):S102-S109.
4. Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA: Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 1995, 18(suppl 2):S81-S84.
5. Gilbert JR, Speer MC, Stajich J, Clancy R, Lewis K, Qiu H, Yamaoka L, • Kumar A, Vance J, Stewart C et al.: Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B. J Med Genet 1995, 32:770-773. A large FSHD family that is not linked to 4q35 also shows no linkage to chromosome 10 in the region that cross-hybridizes with the 4q35 probe p13E-11.
6. Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse JG, Grunter A-M, Hofker MH, Moerer P, Williamson R et al.: Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genet 1992, 2:26-30.
7. Van Deutekom JCT, Wijmenga C, Van Tienhoven EAE, Grunter A-M, Hewitt JE, Padberg GW, Van Ommen G-J, Hofker MH, Frants RR: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemry repeated unit. Hum Mol Genet 1993, 2:2037-2042.
8. Upadhyaya JM, Osborn M, Jardine P, Harper PS, Lunt P: Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve 1995, 18(suppl 2):S45-S49.
9. Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, • Wijmenga C, Padberg G, Frants RR: High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 1995, 56:99-105. This is one of several papers in which the authors report a correlation between fragment size detected by the p13E-11 probe and clinical severity of disease. Other observations in this paper include somatic mosaicism, a high rate of new mutation, and a suggestion of anticipation.
10. Lunt PW, Compston AS, Harper PS: Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. J Med Genet 1989, 26:755-760.
11. Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR: Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 1995, 18(suppl 2):S67-S72.
12. Voit T, Lamprecht A, Lenard HG, Goebel HH: Hearing loss in facioscapulohumeral dystrophy. Eur J Pediatr 1986, 145:280-285.
13. Deidda G, Cacurri S, Piazzo N, Gelicetti L: Direct detection of 4q35 •• rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996, 33:361-365. The authors describe the fine mapping of the homologous sequences detected by the probe p13E-11 on chromosomes 4 and 10. Through this analysis, they discovered a restriction site difference between the two loci. Double digestion with EcoRI and BlnI dramatically reduces the size of the chromosome 10 alleles, while leaving the chromosome 4 alleles relatively large. This finding allows confident assignment of alleles in the FSHD size range to chromosome 4, even in families too small to show independent linkage to chromosome 4.
14. Lunt PW, Jardine PE, Koch MC, Maynard J, Osbom M, Williams M, Harper PS, • Upadhyaya M: Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995, 4:951-958. This is one of several papers in which the authors report a correlation between fragment size detected by the p13E-11 probe and clinical severity of disease. In this paper, ascertainment is minimized by looking at age to require a wheelchair in addition to age at onset of weakness.
15. Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McCermott M, King W, • Weiffenbach B, Figlewicz D, Group F-D: Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neural 1996, 39:744-748. Formal quantitive strength testing shows a correlation between severity of disease and size of fragment detected by the p13E-11 probe.
16. Goto K, Lee JH, Matsuda C, Hirabayashi K, Kojo T, Nakamura A, Mitsunaga Y, • Furukawa T, Sahashi K, Arahata K: DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations. Neuromusc Disord 1995, 5:201-208. This is one of several papers in which the authors report a correlation between fragment size detected by the p13E-11 probe and clinical severity of disease, as well as anticipation.
17. Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C, van Deutekom JCT, Francis F, Sharpe PT, Hofker M et al.: Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 1994, 3:1287-1295.
18. Winokur ST, Bengtsson U, Federsen J, Mathews JD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, Schutte BC: The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatln structure in the pathogenesis of the disease. Chromosome Res 1994, 2:225-234.
19. Lyle R, Wright TJ, Clark LN, Hewitt JE: The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 1995, 28:389-397.
20. Bakker E, Wijmenga C, Vossen RHAM, Padberg GW, Hewitt J, Vanderwielen M, •• Rasmussen K, Frants RR: The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 1995, 18(suppl 2): S39-S44. The authors show that the fragments detected with the probe p13E-11 show linkage to chromosome 10 in addition to chromosome 4q35. This was a critical first step in more confident interpretation of Southern blots results for FSHD families without a new mutation.
21. Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L: Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the FSHD locus on chromosome 4qter. Eur J Hum Genet 1995, 3:155-167.
22. Bedell MA, Jenkins NA, Copeland NG: Good genes in bad neighborhoods. Nature Genet 1996, 12:229-232.
23. Milot E, Fraser P, Grosveld F: Position effects and genetic disease. Trends Genet 1996, 12:123-126.
24. van Deutekom JCT, Lemmers RJLF, Grewal PK, van Geel M, Romberg S, •• Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR: Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 1996, 5:581-590. The authors describe the isolation of the first candidate gene for FSHD to be identified by positional cloning. The gene was originally isolated from a muscle cDNA library and appears to be part of a novel gene family. No alteration in expression was shown in FSHD patients.
25. Lane PW, Beamer TC, Myers DD: Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Heredit 1976, 67:135-138.
26. Mathews KD, Rapisarda D, Bailey HL, Murray JC, Schelper RL, Smith R: •• Phenotypic and pathologic evaluation of the myd mouse: a candidate for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 1995, 54: 601-606. The clinical and laboratory phenotype of the myodystrophy (myd) mouse is described in this report. The myd mouse shows progressive weakness, dystrophy muscle histology, evaluated serum creatine kinase, and abnormal brainstem auditory evoked responses. This mouse mutant is a candidate model for FSHD.
27. Terajima M, Matsui Y, Copeland NG, Gilbert DJ, Jenkins NA, Obinata M: Structural organization of the mouse glycophorin A gene. J Biochem 1994, 116:1105-1110.
28. Anderson DM, Johnson L, Glaccum MB, Copeland NG, Gilbert DJ, Jenkins NA, Valentine V, Kirstein MN, Shapiro DN, Morris SW et al.: Chromosomal assignment A genomic structure of I115. Genomics 1995, 25:701-706.
29. Mills KA, Mathews KD, Scherpbier-Haddem T, Schelper RL, Schmalzel R, • Bailey HL, Nadeau JH, Buetow KH, Murray JC: Genetic mapping near the myd locus on mouse chromosome 8. Mamm Genome 1995, 6: 278-280. Genetic mapping around the myd locus is described, confirming that myd is flanked by genes with homotogy to human 4q31-35.
30. Tenhunen K, Laan M, Manninen T, Palotie A, Peltonon L, Jalanko A: Molecular cloning, chromosomal assignment, and expression of the mouse aspartylglucosaminidase gene. Geomics 1995, 30:244-250.
31. Mills KA, Ellison JW, Mathews KD: The Ant1 gene maps near Kal3 on proximal mouse chromosome 8. Mamm Genome 1996 (In Press).
32. Mathews KD, Mills KA, Bailey HL, Rapisarda D, Schelper R, Smith R, Murray JC: Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q. Muscle Nerve 1995, 18(suppl 2):S98-S102.
33. Slaugenhaupt SA, Roca AL, Liebert CB, Altherr MR, Gusella JF, Reppert SM: Mapping of the gene for the Mel1a-melatonon receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics 1995, 27:355-357.
34. Naggert JK, Fricker LD, Varlamov O, Nishina P, Rouille Y, Steiner DF, Carroll RJ, Paigen BJ, Leiter EH: Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. Nature Genet 1995, 10:135-142.
35. Ceci JD: Mouse chromosome 8. Mamm Genome 1996, 7 (In Press).