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Genomics
Article . 2005 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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Genomics
Article . 2006
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Radboud Repository
Article . 2005
Data sources: Radboud Repository
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Identifying new candidate genes for hereditary facial paresis on chromosome 3q21–q22 by RNA in situ hybridization in mouse

Authors: Zwaag, B. van der; Burbach, J.P.H.; Scharfe, C.; Oefner, P.J.; Brunner, H.G.; Padberg, G.W.A.M.; Bokhoven, J.H.L.M. van;

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21–q22 by RNA in situ hybridization in mouse

Abstract

Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis and Möbius syndrome remain to be discovered. Here we focus on HCFP linked to chromosome 3q21-q22 and identify new candidate genes using expression analysis by means of RNA in situ hybridization during mouse embryogenesis. We selected 28 positional candidates and identified 17 genes with undetectable expression levels during mouse development, ubiquitous expression, or expression in tissues not affected in HCFP. Additionally, 7 genes were excluded by direct sequence or reverse transcription-PCR analysis. The remaining 4 genes (Klf15, Flj40083, Kiaa0779, and Podxl2) were found to be expressed at spatial and temporal positions during mouse development that correlate with HCFP regions in humans, defining these genes as primary candidates in HCFP.

Keywords

Gene Expression Profiling, DCN 2: Functional Neurogenomics, Facial Paralysis, Embryonic Development, Gene Expression Regulation, Developmental, NCMLS 6: Genetics and epigenetic pathways of disease, UMCN 5.1: Genetic defects of metabolism, Mice, IGMD 3: Genomic disorders and inherited multi-system disorders, Animals, Humans, RNA, Genetic Predisposition to Disease, UMCN 3.1: Neuromuscular development and genetic disorders, Chromosomes, Human, Pair 3, In Situ Hybridization

  • BIP!
    Impact byBIP!
    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    17
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
17
Average
Top 10%
Average
Green
gold