Literature DB >> 1642240

Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.

B Weiffenbach1, R Bagley, K Falls, C Hyser, D Storvick, S J Jacobsen, P Schultz, J Mendell, K Willems van Dijk, E C Milner.   

Abstract

The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping families from the Centre d'Etude du Polymorphisme Humaine enabled these loci and FSHD to be placed in the following order: cen-D4S171-factor XI-D4S163-D4S139-FSHD-qter. One interval, D4S171-FSHD, showed significant sex-specific differences in recombination. Homogeneity tests supported linkage of FSHD to these 4q DNA markers in all of the families we studied. The position of FSHD is consistent with that generated by other groups as members of an international FSHD consortium.

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Year:  1992        PMID： 1642240      PMCID： PMC1682668     

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


  12 in total

1.  Framework multipoint map of the long arm of human chromosome 4 and telomeric localization of the gene for FSHD.

Authors:  B Weiffenbach; R G Bagley; K Falls; J Dubois; C Hyser; D Storvick; P Schultz; J R Mendell; E C Milner; S J Jacobsen
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Authors:  Rinse Klooster; Kirsten Straasheijm; Bharati Shah; Janet Sowden; Rune Frants; Charles Thornton; Rabi Tawil; Silvère van der Maarel
Journal:  Eur J Hum Genet       Date:  2009-10-07       Impact factor: 4.246

3.  New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Authors:  Mouna Barat-Houari; Karine Nguyen; Rafaëlle Bernard; Céline Fernandez; Catherine Vovan; Corinne Bareil; Philippe Khau Van Kien; Delphine Thorel; Sylvie Tuffery-Giraud; Francis Vasseur; Shahram Attarian; Jean Pouget; Anne Girardet; Nicolas Lévy; Mireille Claustres
Journal:  Eur J Hum Genet       Date:  2009-11-25       Impact factor: 4.246

4.  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

5.  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

6.  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

7.  Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.

Authors:  Takako I Jones; Charis L Himeda; Daniel P Perez; Peter L Jones
Journal:  Neuromuscul Disord       Date:  2016-12-23       Impact factor: 4.296

8.  Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.

Authors:  Isabella Scionti; Francesca Greco; Giulia Ricci; Monica Govi; Patricia Arashiro; Liliana Vercelli; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Michelangelo Cao; Antonio Di Muzio; Maurizio Moggio; Lucia Morandi; Enzo Ricci; Carmelo Rodolico; Lucia Ruggiero; Lucio Santoro; Gabriele Siciliano; Giuliano Tomelleri; Carlo Pietro Trevisan; Giuliana Galluzzi; Woodring Wright; Mayana Zatz; Rossella Tupler
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

9.  Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.

Authors:  Dalila Laoudj-Chenivesse; Gilles Carnac; Catherine Bisbal; Gerald Hugon; Sandrine Bouillot; Claude Desnuelle; Yegor Vassetzky; Anne Fernandez
Journal:  J Mol Med (Berl)       Date:  2004-11-17       Impact factor: 4.599

10.  Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.

Authors:  R Tupler; G Perini; M A Pellegrino; M R Green
Journal:  Proc Natl Acad Sci U S A       Date:  1999-10-26       Impact factor: 11.205
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