Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation

Hox11l1 is a member of the Hox11 unclustered homeobox genes, a family characterised by a novel homeodomain with threonine replacing isoleucine or valine at a critical site (residue 48 in the third helix); this alters the DNA recognition motif, which may identify a unique set of target genes. 5 Hox11...

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Published in:Journal of medical genetics 2000-07, Vol.37 (7), p.e9-9
Main Authors: COSTA, MARCELLA, FAVA, MONICA, SERI, MARCO, CUSANO, ROBERTO, SANCANDI, MONICA, FORABOSCO, PAOLA, LERONE, MARGHERITA, MARTUCCIELLO, GIUSEPPE, ROMEO, GIOVANNI, CECCHERINI, ISABELLA
Format: Article
Language:English
Subjects:
Congenital diseases
Deoxyribonucleic acid
DNA
DNA Mutational Analysis
Drosophila Proteins
Electronic Letters
Embryos
Enteric Nervous System - abnormalities
Exons
Female
Genes
Genes, Homeobox - genetics
Genotype & phenotype
Haplotypes
Hirschsprung Disease - genetics
Humans
Intestinal Diseases - congenital
Intestinal Diseases - genetics
Intestines - abnormalities
Intestines - innervation
Intestines - pathology
Lod Score
Male
Mutation
Pathogenesis
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases - genetics
Rodents
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Summary:Hox11l1 is a member of the Hox11 unclustered homeobox genes, a family characterised by a novel homeodomain with threonine replacing isoleucine or valine at a critical site (residue 48 in the third helix); this alters the DNA recognition motif, which may identify a unique set of target genes. 5 Hox11l1 expression is detectable in mice in the E9.5 to the E12.5 stages of development and involves dorsal root ganglia, cranial (V, IX, X) and enteric nerve ganglia, adrenal glands in embryos, and adrenal glands and intestine in adult mice. Since its expression is limited to tissues derived from neural crest cells,Hox11l1 may play a role in the proliferation or differentiation of neural crest cell lines. 2 Two different Hox11l1 knock out mouse models have been generated. 3 4 In both cases homozygous mutant mice were viable but developed megacolon at the age of 3-5 weeks. [...]mutation screening of the wholeHOX11L1 coding region, performed by PCR-SSCP analysis in 48 patients affected with IND or HSCR, did not show any sequence variant, either causative missense mutation or neutral substitution.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.7.e9