Physical mapping of the albino-deletion complex in the mouse to localize alf/hsdr-1, a locus required for neonatal survival
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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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).”
From Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice (1993) · cites this paper as Kelsey et al. 1992
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.”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [21]
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Biology Division progress report, October 1, 1991--September 30, 1993
Lab., T. (. S. O. R. N., Hartman, F., USDOE, W., & Cook, J. (1993) · doi:10.2172/10184485
- 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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