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Hoxc13 mutant mice lack external hair
1Howard Hughes Medical Institute, Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112-5331, USA.
Genes & Development
|February 21, 1998
Summary
Hoxc13 gene mutations cause brittle hair and alopecia in mice. This study reveals Hoxc13
Area of Science:
- Developmental Biology
- Genetics
- Molecular Biology
Background:
- Hox genes typically exhibit colinear spatial and temporal expression patterns.
- Hoxc13, a member of paralogous group 13, is expected to follow this colinear expression.
- Initial expression of Hoxc13 is observed in embryonic nails and tail.
Purpose of the Study:
- To investigate the role of Hoxc13 in mammalian development.
- To characterize the developmental defects associated with Hoxc13 mutations.
- To explore the potential function of Hoxc13 in appendage development.
Main Methods:
- Gene targeting was employed to create mice with mutant Hoxc13 alleles.
- Expression patterns of Hoxc13 were analyzed in various embryonic and adult tissues.
- Phenotypic analysis of homozygous mutant mice was conducted to identify developmental defects.
Main Results:
- Hoxc13 expression was observed in hair follicles, vibrissae, tongue filiform papillae, and nails, challenging strict spatial colinearity.
- Homozygous Hoxc13 mutant mice displayed defects in all observed expression domains.
- The most prominent phenotype was brittle hair leading to alopecia (hairless mice).
Conclusions:
- Hoxc13 plays a crucial role in the development of hair, nails, and filiform papillae.
- The observed expression pattern suggests Hoxc13 has been co-opted for a common developmental function across these appendages.
- Mutations in Hoxc13 lead to significant defects in hair and nail formation.