Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q

Gert Jansen; Pieter J. de Jong; Chris Amemiya; Charalampos Aslanidis; Duncan J. Shaw; Helen G. Harley; J. David Brook; Ray Fenwick; Robert G. Korneluk; Catherine Tsilfidis; Gary Shutler; Rosella Hermens; Nicole G.M. Wormskamp; Hubert J.M. Smeets; Bé Wieringa

doi:10.1016/0888-7543(92)90118-C

Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q

Gert Jansen, Pieter J. de Jong, Chris Amemiya, Charalampos Aslanidis, Duncan J. Shaw, Helen G. Harley, J. David Brook, Ray Fenwick, Robert G. Korneluk, Catherine Tsilfidis, Gary Shutler, Rosella Hermens, Nicole G.M. Wormskamp, Hubert J.M. Smeets, Bé Wieringa^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

34 Citations (Scopus)

Abstract

The mutation involved in myotonic dystrophy (DM) has been mapped to the region between the ERCC1 DNA repair gene and the anonymous D19S51 locus on 19q13.3. Starting at locus D19S112 (probe pX75b), which served as a novel entry site for this chromosome region, we have established a cosmid contig of approximately 200 kb. In the contig, a gene expressed in the brain and a highly informative, 12-allele (TG)_n variable simple sequence motif (VSSM) were identified. With this marker, designated X75b-VSSM, a highly characteristic size distribution of alleles linked with DM, which differed significantly from that on normal chromosomes, was observed. Combining our physical mapping and genetic data, we show that the X75b-VSSM marker is the closest distal to DM, thus excluding the DM mutation from the entire telomeric portion of the ERCC1-D19S51 region.

Original language	English
Pages (from-to)	509-517
Number of pages	9
Journal	Genomics
Volume	13
Issue number	3
DOIs	https://doi.org/10.1016/0888-7543(92)90118-C
Publication status	Published - Jul 1992
Externally published	Yes

Bibliographical note

Funding Information:
Marga Coerwinkel-Driessen, Frank Oerlemans, and Jennifer Alle-man are gratefully acknowledged for technical assistance with DNA typing, tissue culture, and cosmid pool preparation. We thank R. de Graaf for conducting the statistical calculations. Work performed at the University of Nijmegen was supported by the American Muscular Dystrophy Association, the Prinses Beatrixfonds, Grant 87-2694 and by Grant Ro 389/l&3 from the Deutsche Forschungsgemeinschaft. Work performed at the Lawrence Livermore National Laboratory was performed under the auspices of the U.S. Department of Energy under Contract W-7405-ENG-48.

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Jansen, G., de Jong, P. J., Amemiya, C., Aslanidis, C., Shaw, D. J., Harley, H. G., Brook, J. D., Fenwick, R., Korneluk, R. G., Tsilfidis, C., Shutler, G., Hermens, R., Wormskamp, N. G. M., Smeets, H. J. M., & Wieringa, B. (1992). Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q. Genomics, 13(3), 509-517. https://doi.org/10.1016/0888-7543(92)90118-C

@article{091470a29dcc4298ad36cad77f2507ff,

title = "Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q",

abstract = "The mutation involved in myotonic dystrophy (DM) has been mapped to the region between the ERCC1 DNA repair gene and the anonymous D19S51 locus on 19q13.3. Starting at locus D19S112 (probe pX75b), which served as a novel entry site for this chromosome region, we have established a cosmid contig of approximately 200 kb. In the contig, a gene expressed in the brain and a highly informative, 12-allele (TG)n variable simple sequence motif (VSSM) were identified. With this marker, designated X75b-VSSM, a highly characteristic size distribution of alleles linked with DM, which differed significantly from that on normal chromosomes, was observed. Combining our physical mapping and genetic data, we show that the X75b-VSSM marker is the closest distal to DM, thus excluding the DM mutation from the entire telomeric portion of the ERCC1-D19S51 region.",

author = "Gert Jansen and {de Jong}, {Pieter J.} and Chris Amemiya and Charalampos Aslanidis and Shaw, {Duncan J.} and Harley, {Helen G.} and Brook, {J. David} and Ray Fenwick and Korneluk, {Robert G.} and Catherine Tsilfidis and Gary Shutler and Rosella Hermens and Wormskamp, {Nicole G.M.} and Smeets, {Hubert J.M.} and B{\'e} Wieringa",

note = "Funding Information: Marga Coerwinkel-Driessen, Frank Oerlemans, and Jennifer Alle-man are gratefully acknowledged for technical assistance with DNA typing, tissue culture, and cosmid pool preparation. We thank R. de Graaf for conducting the statistical calculations. Work performed at the University of Nijmegen was supported by the American Muscular Dystrophy Association, the Prinses Beatrixfonds, Grant 87-2694 and by Grant Ro 389/l&3 from the Deutsche Forschungsgemeinschaft. Work performed at the Lawrence Livermore National Laboratory was performed under the auspices of the U.S. Department of Energy under Contract W-7405-ENG-48.",

year = "1992",

month = jul,

doi = "10.1016/0888-7543(92)90118-C",

language = "English",

volume = "13",

pages = "509--517",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press",

number = "3",

}

Jansen, G, de Jong, PJ, Amemiya, C, Aslanidis, C, Shaw, DJ, Harley, HG, Brook, JD, Fenwick, R, Korneluk, RG, Tsilfidis, C, Shutler, G, Hermens, R, Wormskamp, NGM, Smeets, HJM & Wieringa, B 1992, 'Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q', Genomics, vol. 13, no. 3, pp. 509-517. https://doi.org/10.1016/0888-7543(92)90118-C

TY - JOUR

T1 - Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q

AU - Jansen, Gert

AU - de Jong, Pieter J.

AU - Amemiya, Chris

AU - Aslanidis, Charalampos

AU - Shaw, Duncan J.

AU - Harley, Helen G.

AU - Brook, J. David

AU - Fenwick, Ray

AU - Korneluk, Robert G.

AU - Tsilfidis, Catherine

AU - Shutler, Gary

AU - Hermens, Rosella

AU - Wormskamp, Nicole G.M.

AU - Smeets, Hubert J.M.

AU - Wieringa, Bé

N1 - Funding Information: Marga Coerwinkel-Driessen, Frank Oerlemans, and Jennifer Alle-man are gratefully acknowledged for technical assistance with DNA typing, tissue culture, and cosmid pool preparation. We thank R. de Graaf for conducting the statistical calculations. Work performed at the University of Nijmegen was supported by the American Muscular Dystrophy Association, the Prinses Beatrixfonds, Grant 87-2694 and by Grant Ro 389/l&3 from the Deutsche Forschungsgemeinschaft. Work performed at the Lawrence Livermore National Laboratory was performed under the auspices of the U.S. Department of Energy under Contract W-7405-ENG-48.

PY - 1992/7

Y1 - 1992/7

N2 - The mutation involved in myotonic dystrophy (DM) has been mapped to the region between the ERCC1 DNA repair gene and the anonymous D19S51 locus on 19q13.3. Starting at locus D19S112 (probe pX75b), which served as a novel entry site for this chromosome region, we have established a cosmid contig of approximately 200 kb. In the contig, a gene expressed in the brain and a highly informative, 12-allele (TG)n variable simple sequence motif (VSSM) were identified. With this marker, designated X75b-VSSM, a highly characteristic size distribution of alleles linked with DM, which differed significantly from that on normal chromosomes, was observed. Combining our physical mapping and genetic data, we show that the X75b-VSSM marker is the closest distal to DM, thus excluding the DM mutation from the entire telomeric portion of the ERCC1-D19S51 region.

AB - The mutation involved in myotonic dystrophy (DM) has been mapped to the region between the ERCC1 DNA repair gene and the anonymous D19S51 locus on 19q13.3. Starting at locus D19S112 (probe pX75b), which served as a novel entry site for this chromosome region, we have established a cosmid contig of approximately 200 kb. In the contig, a gene expressed in the brain and a highly informative, 12-allele (TG)n variable simple sequence motif (VSSM) were identified. With this marker, designated X75b-VSSM, a highly characteristic size distribution of alleles linked with DM, which differed significantly from that on normal chromosomes, was observed. Combining our physical mapping and genetic data, we show that the X75b-VSSM marker is the closest distal to DM, thus excluding the DM mutation from the entire telomeric portion of the ERCC1-D19S51 region.

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U2 - 10.1016/0888-7543(92)90118-C

DO - 10.1016/0888-7543(92)90118-C

M3 - Article

C2 - 1639379

AN - SCOPUS:0026773612

VL - 13

SP - 509

EP - 517

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 3

ER -

Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q

Abstract

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