Rump white Inversion in the Mouse Disrupts Dipeptidyl Aminopeptidase-Like Protein 6 and Causes Dysregulation of Kit Expression

The mouse rump white (Rw) mutation causes a pigmentation defect in heterozygotes and embryonic lethality in homozygotes. At embryonic day (E) 7.5, Rw/Rw embryos are retarded in growth, fail to complete neurulation and die around E 9.5. The Rw mutation is associated with a chromosomal inverstion span...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1998-11, Vol.95 (23), p.13800-13805
Main Authors: Hough, R. Barry, Lengeling, Andreas, Bedian, Vahe, Lo, Cecilia, Bucan, Maja
Format: Article
Language:English
Subjects:
Alleles
Amino Acid Sequence
Amino acids
Animals
Base Sequence
Biological Sciences
Chromosomes
Cosmids
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics
DNA
DNA probes
Embryonic and Fetal Development - genetics
Embryos
Gene Expression Regulation, Developmental
Gene Expression Regulation, Enzymologic
Genes
Genetic mutation
Genetic screening
Genetics
Mice
Molecular Sequence Data
Mutation
Peptides
Proteins
Proto-Oncogene Proteins c-kit - genetics
RNA
Rodents
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Summary:The mouse rump white (Rw) mutation causes a pigmentation defect in heterozygotes and embryonic lethality in homozygotes. At embryonic day (E) 7.5, Rw/Rw embryos are retarded in growth, fail to complete neurulation and die around E 9.5. The Rw mutation is associated with a chromosomal inverstion spanning 30 cM of the proximal portion of mouse chromosome 5. The Rw embryonic lethality is complemented by the W19Hdeletion, which spans the distal boundary of the Rw inversion, suggesting that the Rw lethality is not caused by the disruption of a gene at the distal end of the inversion. Here, we report the molecular characterization of sequences disrupted by both inversion breakpoints. These studies indicate that the distal breakpoint of the inversion is associated with ectopic Kit expression and therefore may be responsible for the dominant pigmentation defect in Rw/+ mice; whereas the recessive lethality of Rw is probably due to the disruption of the gene encoding dipeptidyl aminopeptidase-like protein 6, Dpp6 [Wada, K., Yokotani, N., Hunter, C., Doi, K., Wenthold, R. J. & Shimasaki, S. (1992) Proc. Natl. Acad. Sci. USA 89, 197-201] located at the proximal inversion breakpoint.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.95.23.13800