A Long-range Restriction Map of the Human Chromosome 19q13 Region: Close Physical Linkage Between CKMM and the ERCC1 and ERCC2 Genes

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1990 Mar 1

PMID 2309701

Citations 17

Authors

H Smeets

L Bachinski

M Coerwinkel

J Schepens

J Hoeijmakers

M van Duin

K H Grzeschik

C A Weber

P de Jong

M J Siciliano

Affiliations

Soon will be listed here.

Abstract

We report on the physical ordering of genes in a relatively small area of chromosome 19, segment q13, containing the locus for myotonic dystrophy (DM), the most frequent heritable muscular dystrophy of adulthood in man. DNAs from somatic cell hybrids with der 19q products that carry a breakpoint across the muscle-specific creatine kinase (CKMM) gene were analyzed by Southern blotting using probes for CKMM, APOC2, and the repair genes ERCC1 and ERCC2. Results were combined with data from CHEF and field inversion-gel-electrophoresis separation of large-sized DNA restriction fragments to establish a map localizing both DNA-repair genes and the CKMM gene within the same 250 kb of DNA, the order being cen-CKMM-ERCC2-ERCC1-ter, with APOC2 being at more than 260 kb proximal to CKMM. Transcriptional start sites of the CKMM and DNA-repair genes are all on the telomeric side of the genes. Our results provide a framework for the construction of a larger physical map of the area, which will facilitate the search for the DM gene.

Citing Articles

An informative panel of somatic cell hybrids for physical mapping on human chromosome 19q.

Bachinski L, Krahe R, White B, Wieringa B, Shaw D, Korneluk R Am J Hum Genet. 1993; 52(2):375-87.

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The 1.5-Mb region spanning the myotonic dystrophy locus shows uniform recombination frequency.

Shutler G, Mackenzie A, Korneluk R Am J Hum Genet. 1994; 54(1):104-13.

PMID: 8279459 PMC: 1918079.

Approaching the multifaceted nature of energy metabolism: inactivation of the cytosolic creatine kinases via homologous recombination in mouse embryonic stem cells.

van Deursen J, Wieringa B Mol Cell Biochem. 1994; 133-134:263-74.

PMID: 7808458 DOI: 10.1007/BF01267959.

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

Harley H, Brook J, Floyd J, Rundle S, Crow S, Walsh K Am J Hum Genet. 1991; 49(1):68-75.

PMID: 2063878 PMC: 1683213.

Modulation of gene activity by consecutive gene targeting of one creatine kinase M allele in mouse embryonic stem cells.

van Deursen J, Lovell-Badge R, Oerlemans F, Schepens J, Wieringa B Nucleic Acids Res. 1991; 19(10):2637-43.

PMID: 2041741 PMC: 328181. DOI: 10.1093/nar/19.10.2637.

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