Literature DB >> 1642238

The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).

M Upadhyaya1, P Lunt, M Sarfarazi, W Broadhead, J Farnham, P S Harper.   

Abstract

Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage relationship to facioscapulohumeral muscular dystrophy (FSHD) in a series of 23 families with this disease. Two hypervariable markers, pH30 (D4S139) and EFD 139.1 (D4S184), both show close linkage with the disorder, with a maximum recombination fraction (theta max) of .02 and a maximum lod score (Zmax) of 36.77 and 34.50, respectively; two other markers, the locus for factor XI (F11) and the microsatellite marker Mfd22 (D4S171), both show less close linkage, with respective theta max of .16 (Zmax = 3.40) for F11 and .24 (Zmax = 1.61) for D4S171. While the relative ordering and orientation of the loci on the chromosome remain provisional, analysis of 15 individual recombination events in seven families supports the order D4S171-F11-D4S184-D4S139-FSHD, with the disease locus telomeric to all four markers.

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Year:  1992        PMID： 1642238      PMCID： PMC1682684     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  19 in total

1.  Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization.

Authors:  C Wijmenga; G W Padberg; P Moerer; J Wiegant; L Liem; O F Brouwer; E C Milner; J L Weber; G B van Ommen; L A Sandkuyl
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

2.  Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.

Authors:  M Sarfarazi; C Wijmenga; M Upadhyaya; B Weiffenbach; C Hyser; K Mathews; J Murray; J Gilbert; M Pericak-Vance; P Lunt
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).

Authors:  K A Mills; K H Buetow; Y Xu; T M Ritty; K D Mathews; S E Bodrug; C Wijmenga; I Balazs; J C Murray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

4.  A highly polymorphic VNTR locus on the long arm of chromosome 4.

Authors:  M R Altherr; J J Wasmuth; Y Nakamura; R White
Journal:  Nucleic Acids Res       Date:  1991-03-11       Impact factor: 16.971

5.  DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease.

Authors:  M Upadhyaya; P W Lunt; M Sarfarazi; W Broadhead; J Daniels; M Owen; P S Harper
Journal:  Lancet       Date:  1990-11-24       Impact factor: 79.321

6.  A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes.

Authors:  M Upadhyaya; M Sarfarazi; P W Lunt; W Broadhead; P S Harper
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

Review 7.  A workshop on facioscapulohumeral (Landouzy-Déjérine) disease, Manchester, 16 to 17 November 1988.

Authors:  P W Lunt
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

8.  An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease.

Authors:  M Sarfarazi; M Upadhyaya; G Padberg; M Pericak-Vance; T Siddique; G Lucotte; P Lunt
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

9.  Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14.

Authors:  P W Lunt; J G Noades; M Upadhyaya; M Sarfarazi; P S Harper
Journal:  J Neurol Sci       Date:  1988-12       Impact factor: 3.181

10.  A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates.

Authors:  K H Buetow; R Shiang; P Yang; Y Nakamura; G M Lathrop; R White; J J Wasmuth; S Wood; L D Berdahl; N J Leysens
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025
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  8 in total

1.  Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors:  R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

2.  A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S T Winokur; B Schutte; B Weiffenbach; S S Washington; D McElligott; A Chakravarti; J H Wasmuth; M R Altherr
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

3.  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.

Authors:  S T Winokur; U Bengtsson; J Feddersen; K D Mathews; B Weiffenbach; H Bailey; R P Markovich; J C Murray; J J Wasmuth; M R Altherr
Journal:  Chromosome Res       Date:  1994-05       Impact factor: 5.239

4.  De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

Authors:  P E Jardine; M C Koch; P W Lunt; J Maynard; K D Bathke; P S Harper; M Upadhyaya
Journal:  Arch Dis Child       Date:  1994-09       Impact factor: 3.791

5.  Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

Authors:  R Tupler; A Berardinelli; L Barbierato; R Frants; J E Hewitt; G Lanzi; P Maraschio; L Tiepolo
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

6.  SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

Authors:  Camille Dion; Stéphane Roche; Camille Laberthonnière; Natacha Broucqsault; Virginie Mariot; Shifeng Xue; Alexandra D Gurzau; Agnieszka Nowak; Christopher T Gordon; Marie-Cécile Gaillard; Claire El-Yazidi; Morgane Thomas; Andrée Schlupp-Robaglia; Chantal Missirian; Valérie Malan; Liham Ratbi; Abdelaziz Sefiani; Bernd Wollnik; Bernard Binetruy; Emmanuelle Salort Campana; Shahram Attarian; Rafaelle Bernard; Karine Nguyen; Jeanne Amiel; Julie Dumonceaux; James M Murphy; Jérôme Déjardin; Marnie E Blewitt; Bruno Reversade; Jérôme D Robin; Frédérique Magdinier
Journal:  Nucleic Acids Res       Date:  2019-04-08       Impact factor: 16.971

7.  Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.

Authors:  Stéphane Roche; Camille Dion; Natacha Broucqsault; Camille Laberthonnière; Marie-Cécile Gaillard; Jérôme D Robin; Arnaud Lagarde; Francesca Puppo; Catherine Vovan; Charlene Chaix; Emmanuelle Salort Campana; Shahram Attarian; Marc Bartoli; Rafaelle Bernard; Karine Nguyen; Frédérique Magdinier
Journal:  Neurol Genet       Date:  2019-11-14

8.  Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S Cacurri; G Deidda; N Piazzo; A Novelletto; I La Cesa; S Servidei; G Galluzzi; C Wijmenga; R R Frants; L Felicetti
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132
  8 in total

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