NDLI: A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice

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A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice

Content Provider	Springer Nature Link
Author	Calvert, Jennifer A. Dedos, Skarlatos G. Hawker, Kelvin Fleming, Michelle Lewis, Morag A. Steel, Karen P.
Copyright Year	2011
Abstract	The hush puppy mouse mutant has been shown previously to have skull and outer, middle, and inner ear defects, and an increase in hearing threshold. The fibroblast growth factor receptor 1 (Fgfr1) gene is located in the region of chromosome 8 containing the mutation. Sequencing of the gene in hush puppy heterozygotes revealed a missense mutation in the kinase domain of the protein (W691R). Homozygotes were found to die during development, at approximately embryonic day 8.5, and displayed a phenotype similar to null mutants. Reverse transcription PCR indicated a decrease in Fgfr1 transcript in heterozygotes and homozygotes. Generation of a construct containing the mutation allowed the function of the mutated receptor to be studied. Immunocytochemistry showed that the mutant receptor protein was present at the cell membrane, suggesting normal expression and trafficking. Measurements of changes in intracellular calcium concentration showed that the mutated receptor could not activate the IP3 pathway, in contrast to the wild-type receptor, nor could it initiate activation of the Ras/MAP kinase pathway. Thus, the hush puppy mutation in fibroblast growth factor receptor 1 appears to cause a loss of receptor function. The mutant protein appears to have a dominant negative effect, which could be due to it dimerising with the wild-type protein and inhibiting its activity, thus further reducing the levels of functional protein. A dominant modifier, Mhspy, which reduces the effect of the hush puppy mutation on pinna and stapes development, has been mapped to the distal end of chromosome 7 and may show imprinting.
Starting Page	290
Ending Page	305
Page Count	16
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	22
Issue Number	5-6
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-04-10
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Zoology Cell Biology Anatomy
Content Type	Text
Resource Type	Article
Subject	Genetics

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