Mutations in human pathology - diss.fu
... Although it is obvious from their supplementary Fig. 2 that amino acid 89 is mutated, Abuzzahab et al. , the authors who identified this mutation, error1408 neously refer to it as p.R59X. Unfortunately other authors as well as OMIM have adopted this mistake. ...
... Although it is obvious from their supplementary Fig. 2 that amino acid 89 is mutated, Abuzzahab et al. , the authors who identified this mutation, error1408 neously refer to it as p.R59X. Unfortunately other authors as well as OMIM have adopted this mistake. ...
SARSIA
... We have developed a protocol to perform a genetic screen for zygotic mutations affecting embryogenesis on the protochordate Ciona intestinalis. The choice of this taxon, whose phylogenetic position places it at the basis of the chordates as one the most primitive vertebrate relatives, could allow to ...
... We have developed a protocol to perform a genetic screen for zygotic mutations affecting embryogenesis on the protochordate Ciona intestinalis. The choice of this taxon, whose phylogenetic position places it at the basis of the chordates as one the most primitive vertebrate relatives, could allow to ...
Metagenomics: DNA sequencing of environmental samples
... be greatly accelerated by microbes that derive energy from the reaction (chemolithotrophs)46. Microbial communities flourish under these seemingly hostile conditions, forming extensive underwater streamers and floating biofilms anchored in pyritic sediments, but are typically of relatively low diver ...
... be greatly accelerated by microbes that derive energy from the reaction (chemolithotrophs)46. Microbial communities flourish under these seemingly hostile conditions, forming extensive underwater streamers and floating biofilms anchored in pyritic sediments, but are typically of relatively low diver ...
Identification of an antibacterial protein by functional screening of a
... In vitro transposon mutagenesis of plasmids from the pigmented clones showed that the loss of function mutants invariably had a transposon inserted in an ORF (of identical sequence in all three pigmented clones) homologous to hemA which encodes glutamyl-tRNA reductase (GluTR), the first enzyme in th ...
... In vitro transposon mutagenesis of plasmids from the pigmented clones showed that the loss of function mutants invariably had a transposon inserted in an ORF (of identical sequence in all three pigmented clones) homologous to hemA which encodes glutamyl-tRNA reductase (GluTR), the first enzyme in th ...
X chromosome in Xq28
... or near the telomeres (1). In some instances (e.g., the homeobox or the globin genes), genes related in function are arranged in groups along the chromosome and in the same topological order in which they are expressed (2, 3). Disruption of such order in the globin gene complex has profound effects ...
... or near the telomeres (1). In some instances (e.g., the homeobox or the globin genes), genes related in function are arranged in groups along the chromosome and in the same topological order in which they are expressed (2, 3). Disruption of such order in the globin gene complex has profound effects ...
The 3`termini of transcripts originating from genes
... Figure 4. Comparison between putative secondary structures of the terminators of the E. coli phages X (A.t R .) and fd (both redrawn from Rosenberg and Court (1b)) and the M:. voltae xerminator described here. Note the lack of an oligo(T) at the 3'end of the termination factor rho dependent terminat ...
... Figure 4. Comparison between putative secondary structures of the terminators of the E. coli phages X (A.t R .) and fd (both redrawn from Rosenberg and Court (1b)) and the M:. voltae xerminator described here. Note the lack of an oligo(T) at the 3'end of the termination factor rho dependent terminat ...
Characterizing the Imprintome
... one parent. One such sample was from growths called hydatidiform moles that develop in unviable pregnancies, when an egg lacking a nucleus is fertilized by two sperm, or by one sperm that has its genome duplicated. The other samples were from people who carried blood cells with duplicated chromosome ...
... one parent. One such sample was from growths called hydatidiform moles that develop in unviable pregnancies, when an egg lacking a nucleus is fertilized by two sperm, or by one sperm that has its genome duplicated. The other samples were from people who carried blood cells with duplicated chromosome ...
Eliminate unnecessary lanes in gels
... purposes of generating mutations. Given that in three months and as many different preparations of competent cells we only generated 3 transformants… Such a tragedy… ...
... purposes of generating mutations. Given that in three months and as many different preparations of competent cells we only generated 3 transformants… Such a tragedy… ...
Evo Lab 3 BLAST
... Between 1990–2003, scientists working on an international research project known as the Human Genome Project were able to identify and map the 20,000–25,000 genes that define a human being. The project also successfully mapped the genomes of other species, including the fruit fly, mouse, and Escheri ...
... Between 1990–2003, scientists working on an international research project known as the Human Genome Project were able to identify and map the 20,000–25,000 genes that define a human being. The project also successfully mapped the genomes of other species, including the fruit fly, mouse, and Escheri ...
analysis of gene function
... Because Cre recombinase can recognize and cut sequence LoxP (34bp) for achieving precise genetic manipulation in mice. Many of these desired genetic manipulations rely on Cre's ability to direct spatially and temporally specified excision of a pre-designated DNA sequence that has been flanked by d ...
... Because Cre recombinase can recognize and cut sequence LoxP (34bp) for achieving precise genetic manipulation in mice. Many of these desired genetic manipulations rely on Cre's ability to direct spatially and temporally specified excision of a pre-designated DNA sequence that has been flanked by d ...
EBI Research - Microarray - Introduction To Biology
... are found in all eukaryotes and are specialised for energy production (respiration). Chloroplasts are organelles found in plant cells which produce sugar using light. Light is the ultimate source of energy for almost all life on Earth. The area of the cell outside the nucleus and the organelles is c ...
... are found in all eukaryotes and are specialised for energy production (respiration). Chloroplasts are organelles found in plant cells which produce sugar using light. Light is the ultimate source of energy for almost all life on Earth. The area of the cell outside the nucleus and the organelles is c ...
BioCyc Microbial Genomes and Metabolic Pathways Web Portal
... genome and metabolic-pathway information for 9,300 microbes. BioCyc databases are unique in integrating a diverse range of data and providing a high level of curation for important microbes. BioCyc curators summarize and synthesize information from thousands of publications, saving scientists time i ...
... genome and metabolic-pathway information for 9,300 microbes. BioCyc databases are unique in integrating a diverse range of data and providing a high level of curation for important microbes. BioCyc curators summarize and synthesize information from thousands of publications, saving scientists time i ...
Chromosomal assignment of seven genes on canine chromosomes
... since it is the most recent and the best described. In any case, the canine chromosomal assignments of the genes in Table 1 can be easily reassigned if a different idiogram is eventually agreed upon. Another idiogram for the canine chromosomes has been proposed by Selden and coworkers (1975). In the ...
... since it is the most recent and the best described. In any case, the canine chromosomal assignments of the genes in Table 1 can be easily reassigned if a different idiogram is eventually agreed upon. Another idiogram for the canine chromosomes has been proposed by Selden and coworkers (1975). In the ...
An Exceptional Gene: Evolution of the TSPY Gene Family
... In 2010, we can view the TSPY gene family with the perspective provided by a high-quality finished sequence of the human genome [1], whole-genome sequences from multiple humans generated by the 1000 Genomes Project [2], published draft chimpanzee [3] and macaque [4] genome sequences, and unpublished ...
... In 2010, we can view the TSPY gene family with the perspective provided by a high-quality finished sequence of the human genome [1], whole-genome sequences from multiple humans generated by the 1000 Genomes Project [2], published draft chimpanzee [3] and macaque [4] genome sequences, and unpublished ...
PPT
... If a merging repeat has references that belong to multiple distinct classes, then those classes are combined into one. If a merging repeat contains no reference to an existing class, then the merging repeat forms a new class. ...
... If a merging repeat has references that belong to multiple distinct classes, then those classes are combined into one. If a merging repeat contains no reference to an existing class, then the merging repeat forms a new class. ...
Clustering Method for Repeat Analysis in DNA sequences
... If a merging repeat has references that belong to multiple distinct classes, then those classes are combined into one. If a merging repeat contains no reference to an existing class, then the merging repeat forms a new class. ...
... If a merging repeat has references that belong to multiple distinct classes, then those classes are combined into one. If a merging repeat contains no reference to an existing class, then the merging repeat forms a new class. ...
I. TRANSCRIPTION
... The fetal acetylcholine receptor, has variable kinetics during postnatal development. RTPCR revealed, in addition to the full-length mRNA, three new forms lacking exon 4. One also lacks 19 nucleotides from exon 5, with a 43 residues shorter N-terminus. A third one lacking the complete exon 5 predict ...
... The fetal acetylcholine receptor, has variable kinetics during postnatal development. RTPCR revealed, in addition to the full-length mRNA, three new forms lacking exon 4. One also lacks 19 nucleotides from exon 5, with a 43 residues shorter N-terminus. A third one lacking the complete exon 5 predict ...
Molecular Strategies for detection of insertion of genes in transgenic
... element is incorporated into the host genome. • This is deduced by digesting genomic DNA with a restriction enzyme that does not cut within the transgenic element followed by Southern blot analysis with a probe specific to one or more of the introduced genes. • More than one band = more than one ins ...
... element is incorporated into the host genome. • This is deduced by digesting genomic DNA with a restriction enzyme that does not cut within the transgenic element followed by Southern blot analysis with a probe specific to one or more of the introduced genes. • More than one band = more than one ins ...
Ensembl gene annotation project (e!76) Homo sapiens (human
... which the annotations were made would not be lost. Following the merge, the long intergenic non-coding RNA genes (lincRNAs) annotated by the Ensembl lincRNA pipeline [20] on the human GRCh37 assembly were projected onto the GRCh38 assembly and incorporated in the final gene set. An important feature ...
... which the annotations were made would not be lost. Following the merge, the long intergenic non-coding RNA genes (lincRNAs) annotated by the Ensembl lincRNA pipeline [20] on the human GRCh37 assembly were projected onto the GRCh38 assembly and incorporated in the final gene set. An important feature ...
Notes S1 Simple sequence repeats and transposable elements
... Although the density of SSRs is comparable between introns and exons, there appears to be a clear selection in favour of trinucleotides and hexanucleotides in the exonic coding regions that is absent in introns. Such dominance of triplets over other repeats in coding regions may be explained by low ...
... Although the density of SSRs is comparable between introns and exons, there appears to be a clear selection in favour of trinucleotides and hexanucleotides in the exonic coding regions that is absent in introns. Such dominance of triplets over other repeats in coding regions may be explained by low ...
Horizontal gene transfer and bacterial diversity
... ancestral DNA (Lawrence and Ochman 1998). Comparative analyses of E. coli and Salmonella enterica chromosomes have revealed that a large number of S. enterica genes, which are not present in E. coli (and other closely related enteric species), have nucleotide and codon compositions significantly dif ...
... ancestral DNA (Lawrence and Ochman 1998). Comparative analyses of E. coli and Salmonella enterica chromosomes have revealed that a large number of S. enterica genes, which are not present in E. coli (and other closely related enteric species), have nucleotide and codon compositions significantly dif ...
Literature retrieval
... Human gene thesaurus To solve the ambiguity of gene names [1, 2], including synonyms (different names for the same gene) and homonyms (different genes or unrelated concepts with the same name), GenCLiP uses a human gene thesaurus that collected all of aliases for each gene and limited the specificit ...
... Human gene thesaurus To solve the ambiguity of gene names [1, 2], including synonyms (different names for the same gene) and homonyms (different genes or unrelated concepts with the same name), GenCLiP uses a human gene thesaurus that collected all of aliases for each gene and limited the specificit ...
Genetic polymorphisms in cytochrome C oxidase subunit
... Mitochondria are organelles which is producing energy inside the cells. Mitochondria have a separate genome from nucleus genome which is called mitochondrial DNA (mtDNA). There are several copies of mtDNA in each mitochondrion organelle in mammalian cells [1]. MtDNA is small and has high copy number ...
... Mitochondria are organelles which is producing energy inside the cells. Mitochondria have a separate genome from nucleus genome which is called mitochondrial DNA (mtDNA). There are several copies of mtDNA in each mitochondrion organelle in mammalian cells [1]. MtDNA is small and has high copy number ...
Unlocking my genome - Piner High Stem Cafe
... suspect would be tied to disease, but it hasn't actually manifested, and it's unclear if and how it will. My report would come back with a section titled "Variants of Unknown Significance" — mutations for which there is limited evidence of relevance to disease, but which can't confidently be counted ...
... suspect would be tied to disease, but it hasn't actually manifested, and it's unclear if and how it will. My report would come back with a section titled "Variants of Unknown Significance" — mutations for which there is limited evidence of relevance to disease, but which can't confidently be counted ...
this PDF file - Journal of Big History
... Parts five and six continue the narrative of increased human understanding over time; however, they do so almost as applied science, analyzing the gene within a variety of particularly relevant social issues. Section five, “Through the Looking Glass,” discusses different topics researched over the p ...
... Parts five and six continue the narrative of increased human understanding over time; however, they do so almost as applied science, analyzing the gene within a variety of particularly relevant social issues. Section five, “Through the Looking Glass,” discusses different topics researched over the p ...
Transposable element
A transposable element (TE or transposon) is a DNA sequence that can change its position within the genome, sometimes creating or reversing mutations and altering the cell's genome size. Transposition often results in duplication of the TE. Barbara McClintock's discovery of these jumping genes earned her a Nobel prize in 1983.TEs make up a large fraction of the C-value of eukaryotic cells. There are at least two classes of TEs: class I TEs generally function via reverse transcription, while class II TEs encode the protein transposase, which they require for insertion and excision, and some of these TEs also encode other proteins. It has been shown that TEs are important in genome function and evolution. In Oxytricha, which has a unique genetic system, they play a critical role in development. They are also very useful to researchers as a means to alter DNA inside a living organism.