Search results for "Coding region"
showing 10 items of 78 documents
Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12
2012
BACKGROUND: The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS: Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutati…
desat1 and the Evolution of Pheromonal Communication in Drosophila
2009
1749-6632 (Electronic) 0077-8923; The evolution of communication is a fundamental biological problem. The genetic control of the signal and its reception must be tightly coadapted, especially in interindividual sexual communication. However, there is very little experimental evidence for tight genetic linkage connecting the emission of a signal and its reception. In Drosophila melanogaster, desat1 is the first known gene that simultaneously affects the emission and the perception of sex pheromones. Our experiments show that both aspects of pheromonal communication (the emission and the perception of sex pheromones) depend on distinct genetic control and may result from tissue-specific expre…
desat1: A Swiss army knife for pheromonal communication and reproduction?
2012
International audience; The desat1 gene possesses an extraordinary-maybe unique-feature in the control of sensory communication systems: it codes for the two principal and complementary aspects-the emission and the reception-of Drosophila sex pheromones. These two complex aspects depend on separate genetic control indicating that desat1 pleiotropically acts on pheromonal communication. This gene also control other characters either related to reproduction and to osmoregulation. Such a functional pleiotropy may be related to the molecular structure of desat1 gene which combines a highly conserved coding region with fast evolving regulatory regions: It produces at least five transcripts all g…
Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipopr…
1998
AbstractFamilial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junctions. We present a simple assay based on PCR and denaturing gradient gel electrophoresis, which allows scanning of the promoter, the entire coding sequence, and the splice junctions of the apo CII gene for sequence variants. All gene fragments are amplified using a common PCR protocol and are examined for mutations on a single gradient gel. Using this method and direct sequencing, we identif…
Sequence and evolution of the gene for the monomeric globin I and its linkage to genes coding for dimeric globins in the insect Chironomus thummi.
1995
We isolated genomic clones containing sequences encoding globins I and IA from a Chironomus thummi thummi genomic library. Three clones contain globin IA (ctt-1A) genes, while one contains a globin I (ctt-1) gene. The coding regions of the four genes are identical except for the single base substitution accounting for the globin I/IA polymorphism. The noncoding DNA flanking the coding region is more than 98% similar, confirming a previous hypothesis that the globin ctt-1 and ctt-1A genes are alleles. Hemoglobins I and IA are monomeric in the insect hemolymph. Earlier in situ hybridization studies suggested that monomeric and dimeric globin genes are clustered at different chromosomal loci. …
Low frequency and rare coding variation contributes to multiple sclerosis risk
2018
AbstractMultiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including >230 identified by genome-wide association studies (Patsopoulos et al., 2017). Multiple strands of evidence suggest that the majority of the remaining heritability is also due to the additive effects of individual variants, rather than epistatic interactions between these variants, or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that as much as 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independe…
Are polymorphisms of the β3 -adrenoceptor gene associated with an altered bladder function?
2012
Aims As the presence of a Trp64Arg polymorphism of the gene encoding the β3-adrenoceptor (B3AR) has been linked to the presence of overactive bladder, we investigated whether additional polymorphisms are detectable in this gene and explore their relationships parameters related to lower urinary tract function. Methods The coding region and adjacent stretches of the B3AR gene was sequenced in 91 patients. In total, 1015 patients from a single academic hospital were genotyped for the presence of two single nucleotide polymorphisms. Symptom scores and parameters from pressure-flow studies were analyzed relative to genotype in the B3AR gene. Results No frequent novel polymorphisms were detected…
Characterization of a Cu/Zn Superoxide dismutase-encoding gene region in Drosophila willistoni
1994
A Cu/Zn superoxide dismutase-encoding gene (Sod) from Drosophila willistoni was cloned and sequenced. The gene shows a typical structure for a fruit-fly Sod gene, with a coding region of 462 bp in two exons separated by a 417-bp intron. Comparison of the Sod sequences from D. willistoni and D. melanogaster suggests that these species are only remotely related. Downstream from the Sod gene, there is an ORF on the opposite strand that putatively encodes the last exon of an unidentified gene. The polyadenylation signals of the two genes are separated by only 61 bp in D. willistoni, conforming to the common picture of compact dipteran genomes.
Structural and functional characterization of a transcription-enhancing sequence element in the rbcL gene of the Chlamydomonas chloroplast genome.
2002
The structure and function of a transcription-enhancing sequence element in the coding region of the Chlamydomonas reinhardtii rbcL gene was analyzed in Chlamydomonas chloroplast transformants in vivo. The enhancer sequence is contained within a DNA segment extending from position +108 to position +143, relative to the start site of rbcL gene transcription. The sequence remains functional when inverted or when placed 34 bp closer to or 87 bp further downstream of the basic rbcL promoter. However, it does not function from a site about 250 bp downstream of its original location. Besides promoting transcription initiation from the rbcL promoter, the element is able to augment transcription fr…
Partial Sequence Homogenization in the 5S Multigene Families May Generate Sequence Chimeras and Spurious Results in Phylogenetic Reconstructions
2014
Multigene families have provided opportunities for evolutionary biologists to assess molecular evolution processes and phylogenetic reconstructions at deep and shallow systematic levels. However, the use of these markers is not free of technical and analytical challenges. Many evolutionary studies that used the nuclear 5S rDNA gene family rarely used contiguous 5S coding sequences due to the routine use of head-to-tail polymerase chain reaction primers that are anchored to the coding region. Moreover, the 5S coding sequences have been concatenated with independent, adjacent gene units in many studies, creating simulated chimeric genes as the raw data for evolutionary analysis. This practice…