Cited by 28Genomic variations and chromosomal abnormalitiesGenetic Mapping and Diversity in Plants and AnimalsGenomics and Chromatin Dynamics

Physical mapping of the albino-deletion complex in the mouse to localize alf/hsdr-1, a locus required for neonatal survival

Kelsey, Gavin, Schedl, Andreas, Ruppert, Siegfried, Niswander, Lee, Magnuson, Terry, Klebig, Mitchell L., Rinchik, Eugene M., Schütz, Günther·1992·Genomics

Abstract

The albino-deletion complex in the mouse defines a genetically well-characterized region of chromosome 7 in which a number of loci essential for normal development and viability reside. One locus, designated alf or hsdr-1, is necessary for neonatal survival. Its absence results in hypoglycemia associated with biochemical and ultrastructural abnormalities in hepatocytes and proximal tubule cells of the kidney. We constructed a long-range physical map of the region defined by the proximal segment of the albino-deletion complex as a step toward localizing alf/hsdr-1. Sixteen markers, including 11 whose isolation is described here and in the accompanying paper (A. Schedl et al., 1992, Genomics 14, 288-297), were ordered on a panel of albino-deletion DNAs and their distribution was examined by pulsed-field gel electrophoresis. The resulting approximately 4300-kb physical map covers the entire region absent from the prototypic alf/hsdr-1 deletion c14CoS, estimated as approximately 3600 kb. Since the deletion c11DSD complements and overlaps most of c14CoS, alf/hsdr-1 was mapped at the proximal extreme of c14CoS, approximately 3000 kb from the albino locus. The density of CpG islands was found to be very heterogeneous across the region mapped.

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Crossref · 10.1016/s0888-7543(05)80217-4

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  • Previous mapping studies associated the neonatal defect of c14Cos albino deletion mice with a 310-kb fragment encoding the hepatocyte-specific developmental regulation locus (alf/hsdr-1).

    “Previous mapping studies have associated this defect with a 310-kb fragment encoding the hepatocyte-specific developmental regulation locus (alf/hsdr-1).”
  • Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney.

    “Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney.”

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Authors
Kelsey, G., Schedl, A., Ruppert, S., Niswander, L., Magnuson, T., Klebig, M. L., Rinchik, E. M., & Schütz, G.
Affiliations
  • German Cancer Research Center (DE)
  • Case Western Reserve University (US)
  • Oak Ridge National Laboratory (US)
Venue
Genomics
Publisher
Elsevier BV
Published
1992-10
Volume
14
Issue
2
Pages
275-287
ISSN
0888-7543 (ISSN-L)
OpenAlex
W2020717823
Cited by
28
References
58
FWCI
4.54
Type
journal article
Language
en
Open access
closed
Locations
  • Genomics (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • McKnight Foundation
  • Deutsches Krebsforschungszentrum
  • Health and Social Care Delivery Research
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-24462)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords
mouse chromosome 7, physical mapping, neonatal survival, hypoglycemia, proximal tubular epithelial cells, CpG islands, genetic markers
MeSH terms
Albinism, Animals, Animals, Newborn, Chromosome Mapping, Genetic Markers, Kidney Tubules, Proximal, Liver, Blotting, Southern, Restriction Mapping, DNA Probes, Electrophoresis, Gel, Pulsed-Field, Gene Deletion, Mice

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