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Disease severity varies among cystic fibrosis (CF) patients carrying the same CFTR genotype. Here we studied the mechanism underlying disease variability in individuals carrying a splicing CFTR mutation, 3849+10 kb C→T. This mutation was shown to produce both correctly and aberrantly spliced CFTR transcripts containing an additional cryptic exon. Semiquantitative nondifferential RT-PCR showed considerable...
The hairless (hr) and rhino (hr rh ) mutations are autosomal recessive allelic mutations that map to mouse Chromosome 14. Both hairless and rhino mice have a number of skin and nail abnormalities and develop a striking form of total alopecia at approximately 3–4 weeks of age. The molecular basis of the hairless mouse phenotype was previously found to be the result of a murine leukemia proviral...
The gene for the human transcription factor forkhead related activator 2 (FREAC-2; HGMW-approved symbol FKHL6) has been characterized and found to consist of two exons separated by an intron of 3.6 kb. The first exon encodes the forkhead DNA-binding domain and one of the transcriptional activation domains, AD2. The second exon contains the coding sequence corresponding to the C-terminal activation...
The association of the HLA class III region with many diseases motivates the investigation of unidentified genes in the 30-kb segment between complement component genesBfandC4. RD,which codes for a putative RNA binding protein, is 205 bp downstream ofBf. SKI2W(HGMW-approved symbol SKIV2L), a DEVH-box gene probably involved in RNA turnover, is 171 bp downstream ofRD(HGMW-approved symbol D6S45).RP1(HGMW-approved...
Cytoplasmic linker proteins (CLIPs) have been proposed to mediate the interaction between specific membranous organelles and microtubules. We have recently characterized a novel member of this family, called CLIP-115. This protein is most abundantly expressed in the brain and was found to associate both with microtubules and with an organelle called the dendritic lamellar body. CLIP-115 is highly...
Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which include blepharophimosis, ptosis, and epicanthus inversus. Although it has been suggested that BPES is genetically heterogeneous, a major locus for this condition resides at chromosome 3q23. We have previously mapped a translocation breakpoint associated with BPES to the D3S1316–D3S1615...
Of 311 expressed sequenced tags (ESTs) mapped to single human chromosomes by analysis of a monochromosome somatic cell hybrid panel, 29 were localized to chromosome 3. Analysis of somatic cell hybrid lines containing different regions of chromosome 3 has enabled the regional assignment of these 29 ESTs to 13 of 23 intervals covering chromosome 3. Northern analysis of 25 of the EST clones has provided...
We report the cloning of the mouse ortholog of the humanGPR37gene, which encodes an orphan G-protein-coupled receptor highly expressed in brain tissues and homologous to neuropeptide-specific receptors (985433,Genomics 45:68–77;985433,Biochem. Biophys. Res. Commun. 233:559–567). The genomic organization of theGPR37gene is conserved in both mouse and human species with a single intron interrupting...
HuC is a neural-specific member of the Elav family of RNA-binding proteins. This highly conserved gene family plays a crucial role in neurogenesis, andHuC(HGMW-approved symbol ELAVL3) is expressed at an early stage of neural development. Using a novel tyramide fluorescencein situhybridization (T-FISH) technique, we localizedHuCto chromosome 19p13.2. This localization was confirmed by radiation hybrid...
Information on gene expression and regulation is expanding rapidly, and the complexity of the experimental design and data makes unique demands on databases to store the results. We describe a prototype database containing experimental results on the expression of mammalian β-like globin genes, along with several query methods for accessing the information. The database has tables for DNA transfer...
Most investigations on the role of DNA methylation in cancer have focused on epigenetic changes associated with known tumor suppressor genes. This may have led to an underestimation of the number of CpG islands altered by DNA methylation, since it is possible that a subset of unknown genes relevant to cancer development may preferentially be affected by epigenetic rather than genetic means and would...
We identified two human sequences and one mouse sequence in the database of expressed sequence tags that are highly homologous to the N-terminal sequence of eukaryotic RNases H1. The cDNAs for humanRNASEH1and mouseRnaseh1were obtained, their nucleotide sequences determined, and the proteins expressed inEscherichia coliand partially purified. Both proteins have RNase H activityin vitroand they bind...
The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alström syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon–intron structure ofDCTN1along with characterization of the 5′ upstream sequence and alternative splice variants previously identified by Tokitoet al.(1996),Mol. Biol. Cell7: 1167–1180)...
Genomic imprinting is an epigenetic modification of the gamete or zygote leading to parental origin-specific differential expression of the two alleles of a gene in somatic cells of the offspring. We previously reported that the human K V LQT1 gene is imprinted and disrupted in patients with germline balanced chromosomal rearrangements and Beckwith–Wiedemann syndrome. In human, the gene is...
We present evidence of linkage between markers on chromosome 12 and asthma using the BETA program for nonparametric single- and multipoint linkage analysis. We have used quantitative scores as our phenotypic variables, combining data into indices for asthma and atopy and maximizing heritability. The largest single-locus LODs were achieved for asthma: D12S342 and asthma score (LOD 2.255), D12S324 and...
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