Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: Implications for the origin and evolution of the 3.3 kb repeat family

Chromosoma

Volumn 105, Issue 3, 1996, Pages 180-189

  Clark, Lorraine N ^a,d   Koehler, Udo ^b   Ward, David C ^c   Wienberg, Johannes ^b,d   Hewitt, Jane E ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF MUNICH   (Germany)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d SAN FRANCISCO GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 4Q; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; HOMEOBOX; HUMAN; MONKEY; NONHUMAN; PRIMATE; PULSED FIELD GEL ELECTROPHORESIS; SOUTHERN BLOTTING; TANDEM REPEAT;

CERCOPITHECIDAE; PRIMATES;

EID: 0029812441     PISSN: 00095915     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02509499     Document Type: Article

References (33)

1. Agresti A, Meneveri R, Siccardi A, Marozzi A, Corneo G, Gaudi S, Ginelli E (1989) Linkage in human heterochromatin between highly divergent Sau3A repeats and a new family of repeated DNA sequences (HaeIII family). J Mol Biol 205: 625-631
2. Altherr MR, Bengtsson U, Markovich RP, Winokur ST (1995) Efforts toward understanding the molecular basis of facioscapulohumeral dystrophy. Muscle Nerve Suppl 2:S32-S38
3. Assum G, Fink T, Steinbeißer T, Fisel K (1993) Analysis of human extrachromosomal DNA elements originating from different β-satellite subfamilies. Hum Genet 91:489-495
4. Assum G, Gartmann C, Schempp W, Wohr G (1994) Evolution of the chAB4 multisequence family in primates. Genomics 21:34-41
5. Bakker E, Wijmenga C, Vossen R, Padberg GW, Hewitt JE, Vanderwielen M, Rasmussen K, Frants RR (1995) The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve Suppl 2:S39-S44
6. Bengtsson U, Altherr MR, Wasmuth JJ, Winokur ST (1994) High resolution fluorescence in situ hybridisation to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Hum Mol Genet 3:1801-1805
7. Caccone A, Powell JR (1989) DNA divergence among hominoids. Evolution 43:925-942
8. Choo KH, Vissel B, Brown R, Filby RG, Earle E (1988) Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologous and Robertsonian translocations. Nucleic Acids Res 16:1273-1284
9. Church GM, Gilbert W (1984) Genomic sequencing. Proc Natl Acad Sci USA 81:1991-1995
10. Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L (1995) Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the FSHD locus on chromosome 4qter. Eur J Hum Genet 3:155-167
11. Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C, van Deutekom JCT, Francis F, Sharpe PT, Hofker M, Frants RR, Williamson R (1994) Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3:1287-1295
12. Jauch A, Wienberg J, Stanyon R, Arnold N, Tofanelli S, Ishida T, Cremer T (1992) Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting. Proc Natl Acad Sci USA 89:8611-8615
13. Kurnit DM, Roy S, Stewart GD, Schwedock J, Neve RL, Bruns GAP, Van Keuren MI, Patterson D (1986) The 724 family of DNA sequences is interspersed about the pericentromeric regions of human acrocentric chromosomes. Cytogenet Cell Genet 43:109-116
14. Lunt PW, Harper PS (1991) Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet 28:665-664
15. Lyle R, Wright TJ, Clark LN, Hewitt JE (1995) 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 28:389-397
16. Meneveri R, Agresti A, Marozzi A, Saccone S, Rocchi M, Archidiacono N, Corneo G, Valle GD, Ginelli E (1993) Molecular organisation and chromosomal location of human GC-rich heterochromatic blocks. Gene 123:227-234
17. Meneveri R, Agresti A, Marozzi A, Ginelli E (1995) Analysis of GC-rich repetitive nucleotide sequences in great apes. J Mol Evol 40:405-412
18. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
19. Passos-Bueno MR, Wijmenga C, Takata RE, Marie SKN, Vainzof M, Pavanello RC, Hewitt JE, Bakker E, Carvalho A, Akiyama J, Frants RR, Zatz M (1993) No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers. Hum Mol Genet 2:557-562
20. Pavelitz T, Rusché L, Matera AG, Scharf JM, Weiner AM (1995) Concerted evolution of the tandem array encoding primate U2 snRNA occurs in situ, without changing the cytological context of the RNU2 locus. EMBO J 14:169-177
21. Ried T, Arnold N, Ward DC, Wienberg J (1993) Comparative high-resolution mapping of human and primate chromosomes by fluorescence in situ hybridization. Genomics 18:381-386
22. Sibley C, Comstock J, Ahlquist J (1990) DNA hybridisation evidence of hominoid phylogeny: a reanalysis of the data. J Mol Evol 30:202-236
23. Tyler-Smith C, Willard HF (1993) Mammalian chromosome structure. Curr Opin Genet Dev 3:390-397
24. Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants R, Harper PS, Lunt PW (1993) Molecular analysis of British facioscapulohumeral dystrophy families of 4q DNA rearrangements. Hum Mol Genet 2:981-987
25. van Deutekom JCT, Wijmenga C, van Tienhoven EAE, Gruter A-M, Hewitt JE, Padberg GW, van Ommen G-JB, Hofker MH, Frants RR (1993) FSHD associated rearrangements are due to deletion of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2:2037-2042
26. van Deutekom JCY, Hofker MH, Romberg S, van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR (1995) Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve Suppl 2:S19-S26
27. van Deutekom J, Lemmers R, Grewal P, van Geel M, Romberg S, Dauwerse H, Wright T, Padberg G, Hofker M, Hewitt J, Frants R (1996) Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 5:581-589
28. Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, Schultz P, Olandt S, Frants RR, Pericak-Vance M, Griggs RC (1993) Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events. Nat Genet 4:165-169
29. Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter A-M, Hofker MH, Moerer P, Williamson R, van Ommen G-JB, Padberg GW, Frants RR (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2:26-30
30. Wijmenga C, van Deutekom JCT, Hewitt JE, Padberg GW, van Ommen G-JB, Hofker MH, Frants RR (1994) Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics 19:21-26
31. Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, Schutte BC (1994) The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res 2:225-234
32. Wright TJ, Wijmenga C, Clark LC, Frants RR, Williamson R, Hewitt JE (1993) Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet 2:1673-1678
33. Zhang X-Y, Loflin PT, Gehrke CW, Andrews PA, Ehrlich M (1987) Hypermethylation of human DNA sequences in embryonic carcinoma cells and somatic tissues but not in sperm. Nucleic Acids Res 15:9429-9449