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Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
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Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
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Journal Article
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
2005
Overview
Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects
1
,
2
and associated with loss-of-function mutations of the extracellular matrix protein FRAS1.
Fras1
mutant mice have a blebbed phenotype characterized by intrauterine epithelial fragility generating serous and, later, hemorrhagic blisters. The myelencephalic blebs (
my
) strain has a similar phenotype. We mapped
my
to
Frem2
, a gene related to
Fras1
and
Frem1
, and showed that a
Frem2
gene-trap mutation was allelic to
my
. Expression of
Frem2
in adult kidneys correlated with cyst formation in
my
homozygotes, indicating that the gene is required for maintaining the differentiated state of renal epithelia. Two individuals with Fraser syndrome were homozygous with respect to the same missense mutation of
FREM2
, confirming genetic heterogeneity. This is the only missense mutation reported in any blebbing mutant or individual with Fraser syndrome, suggesting that calcium binding in the CALXβ-cadherin motif is important for normal functioning of
FREM2
.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Calcium
/ Diseases of the osteoarticular system
/ Extracellular Matrix Proteins - genetics
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ Identification and classification
/ Kidneys
/ letter
/ Malformations and congenital and or hereditary diseases involving bones. Joint deformations
/ Medulla Oblongata - pathology
/ Mice
/ Mutants
/ Mutation
/ Proteins
