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Sci China Life Sci. 2019 Oct;62(10):1375-1380. doi: 10.1007/s11427-019-9568-x. Epub 2019 Aug 26.

Crouzon syndrome mouse model exhibits cartilage hyperproliferation and defective segmentation in the developing trachea.

Author information

1
Laboratory of Genetics, University of Wisconsin, Madison, WI, 53706, USA.
2
Department of Surgery, Florida International University College of Medicine, Miami, FL, 33199, USA.
3
Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
4
Laboratory of Genetics, University of Wisconsin, Madison, WI, 53706, USA. xinsun@ucsd.edu.
5
Department of Pediatrics, University of California-San Diego, La Jolla, CA, 92093, USA. xinsun@ucsd.edu.
6
Laboratory of Genetics, University of Wisconsin, Madison, WI, 53706, USA. jverheyden@ucsd.edu.
7
Department of Pediatrics, University of California-San Diego, La Jolla, CA, 92093, USA. jverheyden@ucsd.edu.

Abstract

Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2. Mimicking the human mutation, a mouse model of Crouzon syndrome (Fgfr2342Y) recapitulates patient deformities, including failed tracheal cartilage segmentation, resulting in a cartilaginous sleeve in the homozygous mutants. We found that the Fgfr2C342Y/C342Y mutants exhibited an increase in chondrocytes prior to segmentation. This increase is due at least in part to over proliferation. Genetic ablation of chondrocytes in the mutant led to restoration of segmentation in the lateral but not central portion of the trachea. These results suggest that in the Fgfr2C342Y/C342Y mutants, increased cartilage cell proliferation precedes and contributes to the disruption of cartilage segmentation in the developing trachea.

KEYWORDS:

development; lung; mouse; trachea

PMID:
31463736
DOI:
10.1007/s11427-019-9568-x

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