title: Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis.
abstract: Hereditary sensory neuropathy type I (HSN-I) is an autosomal dominant peripheral neuropathy affecting sensory and motor neurons. The disease involves distal sensory loss, distal muscle wasting and weakness, and variable neural deafness. The HSN1 locus has been mapped to a genetic interval of 3-4 cM on chromosome 9q22.1-q22.3 and is flanked by markers D9S1781 and FB19B7. This interval contains the gene NFIL3, a transcription factor that is regulated by the cytokine IL-3. Northern blot analysis of NFIL3 showed a ubiquitously expressed 2.2-kb mRNA. Expression was highest in the lung, with lower levels of expression in the brain and spinal cord. Mutation analysis by direct sequencing of reverse transcription/polymerase chain reaction products from HSN-I patients excluded the coding region of the NFIL3 from being involved in the pathogenesis of HSN-I.
authors.affiliation: Molecular Medicine Laboratory, University of Sydney, Concord Hospital, NSW, Australia. dennis@med.usyd.edu.au
authors.forename: D J
authors.initials: DJ
authors.lastname: Hulme
authors.forename: I P
authors.initials: IP
authors.lastname: Blair
authors.forename: J L
authors.initials: JL
authors.lastname: Dawkins
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
mesh_terms: D050976:Basic-Leucine Zipper Transcription Factors; D015152:Blotting, Northern; D001921:Brain / Q000378:metabolism; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D051790:G-Box Binding Factors; D015870:Gene Expression; D005820:Genetic Testing; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008168:Lung / Q000378:metabolism; D008969:Molecular Sequence Data; D009928:Organ Specificity; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013116:Spinal Cord / Q000378:metabolism; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D050976:Basic-Leucine Zipper Transcription Factors; D017931:DNA Primers; D004268:DNA-Binding Proteins; D051790:G-Box Binding Factors; C497440:NFIL3 protein, human; D012333:RNA, Messenger; D014157:Transcription Factors