Genetic and Physical Mapping on Chromosome 4 Narrows the Localization of the Gene for Facioscapulohumeral Muscular Dystrophy (FSHD)

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1992 Aug 1

PMID 1642243

Citations 15

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

Affiliations

Soon will be listed here.

Abstract

We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4q ter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, these five markers fell into three groups consistent with the genetic map-D4S171 and F11 in 4pter-4q35, D4S163 and D4S139 in 4q35-4qter, and D4S187 as a junction fragment between these two regions. These markers are in tight linkage to the gene for facioscapulo-humeral muscular dystrophy (FSHD) mapped to this region by several collaborating investigators and provide a framework for further detailed analysis of this region.

Citing Articles

The incidence of mini- and micro-satellite repetitive DNA in the canine genome.

Rothuizen J, Wolfswinkel J, Lenstra J, Frants R Theor Appl Genet. 2013; 89(4):403-6.

PMID: 24177887 DOI: 10.1007/BF00225373.

International Union of Basic and Clinical Pharmacology. LXXV. Nomenclature, classification, and pharmacology of G protein-coupled melatonin receptors.

Dubocovich M, Delagrange P, Krause D, Sugden D, Cardinali D, Olcese J Pharmacol Rev. 2010; 62(3):343-80.

PMID: 20605968 PMC: 2964901. DOI: 10.1124/pr.110.002832.

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

Barat-Houari M, Nguyen K, Bernard R, Fernandez C, Vovan C, Bareil C Eur J Hum Genet. 2009; 18(5):533-8.

PMID: 19935833 PMC: 2987324. DOI: 10.1038/ejhg.2009.207.

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

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C Eur J Hum Genet. 2009; 17(12):1615-24.

PMID: 19809486 PMC: 2987013. DOI: 10.1038/ejhg.2009.62.

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

Tupler R, Barbierato L, Memmi M, Sewry C, De Grandis D, Maraschio P J Med Genet. 1998; 35(9):778-83.

PMID: 9733041 PMC: 1051435. DOI: 10.1136/jmg.35.9.778.

References

Morton N . Sequential tests for the detection of linkage. Am J Hum Genet. 1955; 7(3):277-318. PMC: 1716611. View

Edwards J . The interpretation of lods in linkage analysis. Cytogenet Cell Genet. 1976; 16(1-5):289-93. DOI: 10.1159/000130612. View

Sarfarazi M, Wijmenga C, Upadhyaya M, Weiffenbach B, Hyser C, Mathews K . Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet. 1992; 51(2):396-403. PMC: 1682696. View

Bodrug S, Holden J, Ray P, Worton R . Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J. 1991; 10(12):3931-9. PMC: 453132. DOI: 10.1002/j.1460-2075.1991.tb04963.x. View

Buetow K, Shiang R, Yang P, Nakamura Y, Lathrop G, White R . A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am J Hum Genet. 1991; 48(5):911-25. PMC: 1683054. View

Altherr M, Wasmuth J, Nakamura Y, White R . A highly polymorphic VNTR locus on the long arm of chromosome 4. Nucleic Acids Res. 1991; 19(5):1168. PMC: 333825. DOI: 10.1093/nar/19.5.1168. View

Ning Y, Weber J, Killary A, Ledbetter D, Smith J . Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4. Proc Natl Acad Sci U S A. 1991; 88(13):5635-9. PMC: 51932. DOI: 10.1073/pnas.88.13.5635. View

Buetow K, Nishimura D, Nakamura Y, Jiang O, Murray J . A detailed multipoint gene map of chromosome 1q. Genomics. 1990; 8(1):13-21. DOI: 10.1016/0888-7543(90)90220-o. View

Orita M, Sekiya T, Hayashi K . DNA sequence polymorphisms in Alu repeats. Genomics. 1990; 8(2):271-8. DOI: 10.1016/0888-7543(90)90282-y. View

10.

Nakamura Y, Leppert M, OConnell P, Wolff R, Holm T, Culver M . Variable number of tandem repeat (VNTR) markers for human gene mapping. Science. 1987; 235(4796):1616-22. DOI: 10.1126/science.3029872. View

11.

Theilmann J, Kanani S, Shiang R, Robbins C, Quarrell O, Huggins M . Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet. 1989; 26(11):676-81. PMC: 1015737. DOI: 10.1136/jmg.26.11.676. View

12.

Snell R, Lazarou L, Youngman S, Quarrell O, Wasmuth J, Shaw D . Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet. 1989; 26(11):673-5. PMC: 1015736. DOI: 10.1136/jmg.26.11.673. View

13.

Monaco A, Kunkel L . Cloning of the Duchenne/Becker muscular dystrophy locus. Adv Hum Genet. 1988; 17:61-98. DOI: 10.1007/978-1-4613-0987-1_3. View

14.

Macdonald M, Haines J, Zimmer M, Cheng S, Youngman S, Whaley W . Recombination events suggest potential sites for the Huntington's disease gene. Neuron. 1989; 3(2):183-90. DOI: 10.1016/0896-6273(89)90031-7. View

15.

Weber J, May P . Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989; 44(3):388-96. PMC: 1715443. View

16.

Milner E, Lotshaw C, Willems van Dijk K, Charmley P, Concannon P, Schroeder Jr H . Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4[HGM provisional no. D4S139]. Nucleic Acids Res. 1989; 17(10):4002. PMC: 317900. DOI: 10.1093/nar/17.10.4002. View

17.

Goldgar D, Green P, Parry D, Mulvihill J . Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. Am J Hum Genet. 1989; 44(1):6-12. PMC: 1715467. View

18.

Cox D, Murray J, Buetow K . Report of the committee on the genetic constitution of chromosome 4. Cytogenet Cell Genet. 1989; 51(1-4):121-36. DOI: 10.1159/000132788. View

19.

Kato A, Asakai R, Davie E, Aoki N . Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet Cell Genet. 1989; 52(1-2):77-8. DOI: 10.1159/000132844. View

20.

Keats B, Ott J, Conneally M . Report of the committee on linkage and gene order. Cytogenet Cell Genet. 1989; 51(1-4):459-502. DOI: 10.1159/000132805. View