Chromosome jumping from flanking markers defines the minimal region for alf/hsdr-1 within the albino-deletion complex
Abstract
The locus alf/hsdr-1, defined by the albino-deletion complex on mouse chromosome 7, is essential for neonatal survival. Animals homozygous for a subset of the deletions die shortly after birth due to impaired gene expression in liver parenchymal cells and kidney proximal tubular cells. Here, we describe a detailed analysis of the region containing alf/hsdr-1 by means of chromosome jumping from flanking markers. Three chromosome jumping libraries based on the restriction enzymes XmaI and SalI were constructed. Isolation of eight jumping clones distributed over 450 kb allowed more than 240 kb to be cloned in genomic lambda and cosmid libraries. Five of the probes map within the minimal genetic interval for alf/hsdr-1, which is defined by the proximal borders of the deletions c10R75M and c11DSD. The breakpoints of these deletions were precisely mapped, which allowed alf/hsdr-1 to be localized to a 310-kb interval.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [22]
Cites
Gluecksohn-Waelsch, S. (1979) · Cell · doi:10.1016/0092-8674(79)90001-1 · Cited by 218 · see citing works
Ruppert, S., Kelsey, G., Schedl, A., Schmid, E., Thies, E., & Schütz, G. (1992) · Genes & Development · doi:10.1101/gad.6.8.1430 · Cited by 95 · see citing works
Self-citationKelsey, G., Schedl, A., Ruppert, S., Niswander, L., Magnuson, T., Klebig, M. L., Rinchik, E. M., & Schütz, G. (1992) · Genomics · doi:10.1016/s0888-7543(05)80217-4 · Cited by 28 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Ruppert, S., Kelsey, G., Schedl, A., Schmid, E., Thies, E., & Schütz, G. (1992) · Genes & Development · doi:10.1101/gad.6.8.1430 · Cited by 95 · see citing works
Self-citationAponte, J. L., Sega, G. A., Hauser, L. J., Dhar, M. S., Withrow, C. M., Carpenter, D. A., Rinchik, E. M., Culiat, C. T., & Johnson, D. K. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.2.641 · Cited by 68 · see citing works
Self-citationKelsey, G., Schedl, A., Ruppert, S., Niswander, L., Magnuson, T., Klebig, M. L., Rinchik, E. M., & Schütz, G. (1992) · Genomics · doi:10.1016/s0888-7543(05)80217-4 · Cited by 28 · see citing works
Self-citation
- Authors
- Schedl, A., Ruppert, S., Kelsey, G., Thies, E., 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
- 288-297
- ISSN
- 0888-7543 (ISSN-L)
- OpenAlex
- W1993575721
- Cited by
- 18
- References
- 3
- FWCI
- 2.40
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genomics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- 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 › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- mouse chromosome 7, neonatal survival, liver parenchymal cells, deletion breakpoints
- MeSH terms
- Albinism, Animals, Chromosome Mapping, Homozygote, Kidney Tubules, Proximal, Liver, Restriction Mapping, Electrophoresis, Gel, Pulsed-Field, Gene Deletion, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
