Gene Section SRSF1 (serine/arginine rich splicing factor 1) -
... modular structure with two RNA recognition motifs (RRM) that provide RNA-binding specificity and one arginine/serine-rich domain (RS), involved in protein-protein interactions that facilitate recruitment of the spliceosome. The RS domain acts also as a nuclear localization signal, controlling the su ...
... modular structure with two RNA recognition motifs (RRM) that provide RNA-binding specificity and one arginine/serine-rich domain (RS), involved in protein-protein interactions that facilitate recruitment of the spliceosome. The RS domain acts also as a nuclear localization signal, controlling the su ...
- University of Bath Opus
... similarity in sex-biased gene expression among neighbouring genes. Whether this clustering of genes with similar expression profiles is functional or instead the result of transcriptional interference with adjacent genes displaying non-functional but significant similarity in patterns of gene expres ...
... similarity in sex-biased gene expression among neighbouring genes. Whether this clustering of genes with similar expression profiles is functional or instead the result of transcriptional interference with adjacent genes displaying non-functional but significant similarity in patterns of gene expres ...
Not all mutant phenotypes are equally informative. Forward genetics
... fact: it’s easier to mess things up than to make them better ...
... fact: it’s easier to mess things up than to make them better ...
Are Incomplete Denitrification Pathways a Common Trait in Thermus
... 60 °C. The primary focus of this study was to investigate the denitrification pathways of Thermus (Bacteria) isolates from geothermal springs from Tengchong, China. This study tested the hypothesis that incomplete denitrification is a common characteristic of the genus Thermus, regardless of geograp ...
... 60 °C. The primary focus of this study was to investigate the denitrification pathways of Thermus (Bacteria) isolates from geothermal springs from Tengchong, China. This study tested the hypothesis that incomplete denitrification is a common characteristic of the genus Thermus, regardless of geograp ...
The Genetics of CFTR: Genotype – Phenotype Relationship
... Cystic fibrosis (CF; OMIM 602421, see OMIM link in the website section) is the most common lethal genetic disease of the Caucasian population, with a very variable prevalence, from 1/25000 to 1/900, depending on the geographical region (O'Sullivan & Freedman, 2009; Riordan, 2008). CF is caused by mu ...
... Cystic fibrosis (CF; OMIM 602421, see OMIM link in the website section) is the most common lethal genetic disease of the Caucasian population, with a very variable prevalence, from 1/25000 to 1/900, depending on the geographical region (O'Sullivan & Freedman, 2009; Riordan, 2008). CF is caused by mu ...
Functional cooperation between the non-paralogous
... lumbar region than at the cervical and the thoracic level (Barone, 1986), (ii) all lumbar vertebrae are very similar to each other, lateral and spinous processes (the more useful features for vertebral rank identification) having a smooth gradient of size and shape from the first lumbar vertebra to ...
... lumbar region than at the cervical and the thoracic level (Barone, 1986), (ii) all lumbar vertebrae are very similar to each other, lateral and spinous processes (the more useful features for vertebral rank identification) having a smooth gradient of size and shape from the first lumbar vertebra to ...
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... In a diverse range of species, local rates of crossing-over correlate with genetic diversity but not with genetic divergence [28,29]. These correlations are inferred to be due to an indirect effect of recombination due to the interaction between selection and linkage and their strength can be used t ...
... In a diverse range of species, local rates of crossing-over correlate with genetic diversity but not with genetic divergence [28,29]. These correlations are inferred to be due to an indirect effect of recombination due to the interaction between selection and linkage and their strength can be used t ...
Reciprocal deletion and duplication at 2q23.1 indicates a
... INTRODUCTION Copy number variations (CNVs) have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. Studies show that neurodevelopmental syndromes associated with CNVs emerge from abnormal gene dosage, suggesting that str ...
... INTRODUCTION Copy number variations (CNVs) have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. Studies show that neurodevelopmental syndromes associated with CNVs emerge from abnormal gene dosage, suggesting that str ...
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... it is not known whether a negative feedback mechanism exists requiring production of a functional PfEMP1 protein from one var gene to repress expression of other members of the gene family. Previously, Gannoun-Zaki et al. [17] had shown that a var promoter driving expression of a drug-selectable mar ...
... it is not known whether a negative feedback mechanism exists requiring production of a functional PfEMP1 protein from one var gene to repress expression of other members of the gene family. Previously, Gannoun-Zaki et al. [17] had shown that a var promoter driving expression of a drug-selectable mar ...
The molecular basis of human retinal and vitreoretinal
... (p.Ala295Val) in rhodopsin was found in a Swiss family with autosomal dominant CSNB. It was characterized in a functional assay, where the catalytic GTP exchange of transducin was measured. In the presence of 11-cis retinal, the respective mutant rhodopsin was found to be inactive, similar to wild-t ...
... (p.Ala295Val) in rhodopsin was found in a Swiss family with autosomal dominant CSNB. It was characterized in a functional assay, where the catalytic GTP exchange of transducin was measured. In the presence of 11-cis retinal, the respective mutant rhodopsin was found to be inactive, similar to wild-t ...
Compound heterozygosity of novel missense
... Mutations associated with hereditary combined VKD coagulation factor deficiency are rare. The carboxylase is encoded by a single gene,29 and only 3 naturally occurring missense mutations have previously been identified: Leu394Arg,10 which is impaired in both Glu binding and propeptide binding,30 Trp ...
... Mutations associated with hereditary combined VKD coagulation factor deficiency are rare. The carboxylase is encoded by a single gene,29 and only 3 naturally occurring missense mutations have previously been identified: Leu394Arg,10 which is impaired in both Glu binding and propeptide binding,30 Trp ...
Trans-acting siRNA-mediated repression of ETTIN
... The interaction between zip-2 and ett-7, ett-15 and arf4-2 was studied in F2 families generated by the self-pollination of plants heterozygous for both mutations. The genotype of the plants in these families was determined by PCR, using allele-specific primers. The first two leaves of double mutants ...
... The interaction between zip-2 and ett-7, ett-15 and arf4-2 was studied in F2 families generated by the self-pollination of plants heterozygous for both mutations. The genotype of the plants in these families was determined by PCR, using allele-specific primers. The first two leaves of double mutants ...
Imprinting capacity of gamete lineages in C. elegans
... tandem mixed arrays of the two sequences, with a total copy number of 100-200. By rearing populations at 23°C, we select for pha-1(+) animals that harbor the transgene array. A single clonal line from the plasmid injections was selected for the initial analysis. This line, designated PD3815 (Figure ...
... tandem mixed arrays of the two sequences, with a total copy number of 100-200. By rearing populations at 23°C, we select for pha-1(+) animals that harbor the transgene array. A single clonal line from the plasmid injections was selected for the initial analysis. This line, designated PD3815 (Figure ...
Hemoglobin A2: origin, evolution, and aftermath
... of maturity. These experiments showed that there was a progressive decrease in &-globin synthesis in relation to P-globin in increasingly mature cells. A relative instability of 8-globin mRNA was proposed as a mechanism for the premature decrease in &globin synthesis? Using highly selective probes f ...
... of maturity. These experiments showed that there was a progressive decrease in &-globin synthesis in relation to P-globin in increasingly mature cells. A relative instability of 8-globin mRNA was proposed as a mechanism for the premature decrease in &globin synthesis? Using highly selective probes f ...
The genomic landscape of meiotic crossovers and gene
... Type-1 and type-2 NCO–GC classification is a consequence of allele sharing with the recipient Cvi genotype. Because Col and Ler alleles segregate in an equal (2:2) ratio among the four tetrad offspring, both types of NCO–GCs are expected to occur at similar numbers. However, we identified a striking ...
... Type-1 and type-2 NCO–GC classification is a consequence of allele sharing with the recipient Cvi genotype. Because Col and Ler alleles segregate in an equal (2:2) ratio among the four tetrad offspring, both types of NCO–GCs are expected to occur at similar numbers. However, we identified a striking ...
Genetic mapping of mutations using phenotypic pools and
... from 5 to 10 recombination units. There are similar jumps of progressively smaller amplitude evident at increments of 20 individuals (jumps occur at 20, 40 and 60 individuals). These jumps in window size can be explained by the discontinuous character of the definition of window size. For example, a ...
... from 5 to 10 recombination units. There are similar jumps of progressively smaller amplitude evident at increments of 20 individuals (jumps occur at 20, 40 and 60 individuals). These jumps in window size can be explained by the discontinuous character of the definition of window size. For example, a ...
Cilia are at the heart of vertebrate left–right asymmetry
... by recurrent respiratory infections, chronic sinusitis and male infertility [26]. Most cases are sporadic and may ...
... by recurrent respiratory infections, chronic sinusitis and male infertility [26]. Most cases are sporadic and may ...
Genetic and epigenetic risks of intracytoplasmic sperm injection
... carriers and patients. In addition, polymorphisms reducing the production of the CFTR protein (5T, 7T) have been shown. In particular, the homozygous or heterozygous presence of the 5T allele is a frequent finding in CBAVD patients with incomplete penetrance. The identification of this allele, corre ...
... carriers and patients. In addition, polymorphisms reducing the production of the CFTR protein (5T, 7T) have been shown. In particular, the homozygous or heterozygous presence of the 5T allele is a frequent finding in CBAVD patients with incomplete penetrance. The identification of this allele, corre ...
lecture - Berkeley MCB
... cells. The results described here suggest an exactly opposite hypothesis. The facts can be explained by the supposition that the i gene determines (via an enzyme intermediate) the synthesis, not of an inducer, but of a "repressor" which blocks the synthesis of b-galactosidase, and the exogenous indu ...
... cells. The results described here suggest an exactly opposite hypothesis. The facts can be explained by the supposition that the i gene determines (via an enzyme intermediate) the synthesis, not of an inducer, but of a "repressor" which blocks the synthesis of b-galactosidase, and the exogenous indu ...
Oncogenomics
Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.