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  Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Otto, F., Kanegane, H., & Mundlos, S. (2002). Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation, 19(3), 209-216.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C52-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C53-F
Genre: Journal Article

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 Creators:
Otto, Florian, Author
Kanegane, Hirokazu, Author
Mundlos, Stefan1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, escidoc:1433557              

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Free keywords: cleidocranial dysplasia; CCD; transcription factor; core binding factor; runt domain; RUNX2; CBFA1; differentiation; osteoblast
 Abstract: Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. The locus for this disease was mapped to chromosome 6p21. RUNX2 is a member of the runt family of transcription factors and its expression is restricted to developing osteoblasts and a subset of chondrocytes. Mutations in the RUNX2 gene have been shown to cause CCD. Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients. Although there is a wide spectrum in phenotypic variability ranging from primary dental anomalies to all CCD features plus osteoporosis, no clear phenotype-genotype correlation has been established. However analysis of the three-dimensional structure of the DNA binding runt domain of the RUNX proteins and its interaction with DNA, as well as the cofactor CBFB, start to provide an insight into how missense mutations affect RUNX2 function.

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Language(s): eng - English
 Dates: 2002-02-13
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 25647
 Degree: -

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Title: Human Mutation
Source Genre: Journal
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Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 19 (3) Sequence Number: - Start / End Page: 209 - 216 Identifier: -