The presence of an RHD pseudogene containing a
... either determined the presence or absence of RHD-specific sequences in exon 10 or exon 7 or recognized the size differences between introns 4 of RHD and RHCE.13-16 These techniques were found to be unreliable.16 The absence of certain RHD regions in hybrid genes encoding partial D antigens may predi ...
... either determined the presence or absence of RHD-specific sequences in exon 10 or exon 7 or recognized the size differences between introns 4 of RHD and RHCE.13-16 These techniques were found to be unreliable.16 The absence of certain RHD regions in hybrid genes encoding partial D antigens may predi ...
Multiple RNA regulatory elements mediate distinct
... Pattern formation in the early development of many organisms relies on localized cytoplasmic proteins, which can be prelocalized as mRNAs. The Drosophila oskar gene, required both for posterior body patterning and germ cell determination, encodes one such mRNA. Localization of oskar mRNA is an elabo ...
... Pattern formation in the early development of many organisms relies on localized cytoplasmic proteins, which can be prelocalized as mRNAs. The Drosophila oskar gene, required both for posterior body patterning and germ cell determination, encodes one such mRNA. Localization of oskar mRNA is an elabo ...
Attachment 2.2 Sequencing results
... AHR-related factor (Ahrr), which normally is located within the nucleus and bound to ARNT, competes with AHR. Like AHR it binds to ARNT and this Ahrr/ARNT complex can also bind the XRE. In contrast with the AHR/ARNT complex, the Ahrr/ARNT complex acts as a ...
... AHR-related factor (Ahrr), which normally is located within the nucleus and bound to ARNT, competes with AHR. Like AHR it binds to ARNT and this Ahrr/ARNT complex can also bind the XRE. In contrast with the AHR/ARNT complex, the Ahrr/ARNT complex acts as a ...
RNA 3`-terminal phosphate cyclases and cyclase
... allowed the identification of RtcA proteins in other species and made purified recombinant proteins available for biochemical and structural studies. Analysis of the human cDNA revealed that genes encoding RtcA are highly conserved among eukaryotes, eubacteria and archaea. The encoded proteins repre ...
... allowed the identification of RtcA proteins in other species and made purified recombinant proteins available for biochemical and structural studies. Analysis of the human cDNA revealed that genes encoding RtcA are highly conserved among eukaryotes, eubacteria and archaea. The encoded proteins repre ...
Affymetrix Software User Manuals
... written instructions provided by Affymetrix. You understand and agree that, except as expressly set forth in the Affymetrix terms and conditions, no right or license to any patent or other intellectual property owned or licensable by Affymetrix is conveyed or implied by this Affymetrix product. In p ...
... written instructions provided by Affymetrix. You understand and agree that, except as expressly set forth in the Affymetrix terms and conditions, no right or license to any patent or other intellectual property owned or licensable by Affymetrix is conveyed or implied by this Affymetrix product. In p ...
Zebra Finch Glucokinase Containing Two Homologous Halves Is an
... glucokinase from vertebrates and human hexokinase which have been cut into two halves. N-half of the predicted Zebra finch GK can be found on the branch with other glucokinase. It is situated in the same clade with Gallus gallus and Anolis carolinensis glucokinase, while two later proteins show more ...
... glucokinase from vertebrates and human hexokinase which have been cut into two halves. N-half of the predicted Zebra finch GK can be found on the branch with other glucokinase. It is situated in the same clade with Gallus gallus and Anolis carolinensis glucokinase, while two later proteins show more ...
Nonsensemediated decay of glutathione peroxidase 1 mRNA in the
... site, i.e. 105 bp downstream of the codons (Figure 1; data not shown for TGA), and the cellular site of NMD remained cytoplasmic (data not shown). Therefore, GPx1 mRNA is not an exception to the rule for termination codon position within intron-containing genes, which states that nonsense codons loc ...
... site, i.e. 105 bp downstream of the codons (Figure 1; data not shown for TGA), and the cellular site of NMD remained cytoplasmic (data not shown). Therefore, GPx1 mRNA is not an exception to the rule for termination codon position within intron-containing genes, which states that nonsense codons loc ...
Understanding Reads in RNA-Seq Analysis
... A read will be assigned to a transcript only when it is compatible. A compatible read is a read that fits the transcript model from the chosen annotation database. Compatible reads must be an exonic read (fully mapped to exon); however not all the exonic reads are compatible with a transcript, e.g., ...
... A read will be assigned to a transcript only when it is compatible. A compatible read is a read that fits the transcript model from the chosen annotation database. Compatible reads must be an exonic read (fully mapped to exon); however not all the exonic reads are compatible with a transcript, e.g., ...
Could distal MSH2 upstream deletions cause HNPCC?
... of morphogenetic ligands while migrating to the villus, before being shed in the lumen. Right: a schematic description of the differentiation pathways in the gut epithelium. BMP, bone morphogeneic protein; TGFβ, transforming growth factor β. ...
... of morphogenetic ligands while migrating to the villus, before being shed in the lumen. Right: a schematic description of the differentiation pathways in the gut epithelium. BMP, bone morphogeneic protein; TGFβ, transforming growth factor β. ...
SALSA MLPA probemix P222-A2 LCA mix-2 - MRC
... that together account for approximately 45% of all LCA patients. This SALSA® MLPA® P222 LCA probemix-2 contains probes for 3 of these genes: GUCY2D, RDH12 and RPGRIP1. In addition, this probemix contains 2 probes for the CEP290 gene of which one detects the wild type sequence of the c.2991+1655A>G m ...
... that together account for approximately 45% of all LCA patients. This SALSA® MLPA® P222 LCA probemix-2 contains probes for 3 of these genes: GUCY2D, RDH12 and RPGRIP1. In addition, this probemix contains 2 probes for the CEP290 gene of which one detects the wild type sequence of the c.2991+1655A>G m ...
exon junctions of Euglena gene(s) - DigitalCommons@University of
... junctions would have resulted in major amino acid insertions or deletions within otherwise highly homologous co-linear regions. The Euglena nuclear gene (rbcS) encoding the ribulose1,5-bisphosphate carboxylase/oxygenase small subunit (SSU) also lacks GT-AG intron boundaries (9), suggesting that Eugl ...
... junctions would have resulted in major amino acid insertions or deletions within otherwise highly homologous co-linear regions. The Euglena nuclear gene (rbcS) encoding the ribulose1,5-bisphosphate carboxylase/oxygenase small subunit (SSU) also lacks GT-AG intron boundaries (9), suggesting that Eugl ...
Characterization of the unique intron
... junctions would have resulted in major amino acid insertions or deletions within otherwise highly homologous co-linear regions. The Euglena nuclear gene (rbcS) encoding the ribulose1,5-bisphosphate carboxylase/oxygenase small subunit (SSU) also lacks GT-AG intron boundaries (9), suggesting that Eugl ...
... junctions would have resulted in major amino acid insertions or deletions within otherwise highly homologous co-linear regions. The Euglena nuclear gene (rbcS) encoding the ribulose1,5-bisphosphate carboxylase/oxygenase small subunit (SSU) also lacks GT-AG intron boundaries (9), suggesting that Eugl ...
Product description P048-C1-0315 LMNA-MYOT - MRC
... The P048-C1 probemix contains probes for all 12 exons of the LMNA gene. Two probes are present for exon 1. This probemix furthermore contains probes for all exons of the ZMPSTE24, MYOT and CAV3 genes. Finally, 9 reference probes are included in this probemix, detecting several different autosomal ch ...
... The P048-C1 probemix contains probes for all 12 exons of the LMNA gene. Two probes are present for exon 1. This probemix furthermore contains probes for all exons of the ZMPSTE24, MYOT and CAV3 genes. Finally, 9 reference probes are included in this probemix, detecting several different autosomal ch ...
Alternative mRNA Splicing Generates the Two
... isolated from spinach and Arabidopsis thaliana indicates that the two polypeptides of rubisco activase arise from alternative splicing of a common pre-mRNA. In spinach, two 5’ splice sites are used in processing a single 137nucleotide intron near the 3‘ end of the primary transcript. This intron was ...
... isolated from spinach and Arabidopsis thaliana indicates that the two polypeptides of rubisco activase arise from alternative splicing of a common pre-mRNA. In spinach, two 5’ splice sites are used in processing a single 137nucleotide intron near the 3‘ end of the primary transcript. This intron was ...
Supplementary Figure Legends (doc 34K)
... investigation of NF1 is achieved by a cDNA sequencing approach (step ). Point mutations identified by this approach are observed in 88.2% of the NF1 patients. In front of a negative screening of large deletion or point mutations which occurs in nearly 7% of the cases, a quantitative analysis of nea ...
... investigation of NF1 is achieved by a cDNA sequencing approach (step ). Point mutations identified by this approach are observed in 88.2% of the NF1 patients. In front of a negative screening of large deletion or point mutations which occurs in nearly 7% of the cases, a quantitative analysis of nea ...
Control of human β-globin mRNA stability and its impact on beta
... hemoglobin has a high oxygen affinity24,25 causing secondary polycythemia. Most individuals with this condition have asymptomatic erythrocytosis, but a homozygote for the Tak mutation has already been reported with hypoxemia and aggravated respiratory distress.25 These data indicate that, unlike the ...
... hemoglobin has a high oxygen affinity24,25 causing secondary polycythemia. Most individuals with this condition have asymptomatic erythrocytosis, but a homozygote for the Tak mutation has already been reported with hypoxemia and aggravated respiratory distress.25 These data indicate that, unlike the ...
genomebiology.com
... exons/introns from previously intronic/exonic sequences, respectively), and insertion into first and last exons. However, no extensive analysis has compared the effects of TEs on the transcriptomes of mammals, non-mammalian vertebrates and invertebrates. Results: We analyzed the influence of TEs on ...
... exons/introns from previously intronic/exonic sequences, respectively), and insertion into first and last exons. However, no extensive analysis has compared the effects of TEs on the transcriptomes of mammals, non-mammalian vertebrates and invertebrates. Results: We analyzed the influence of TEs on ...
Annotation Strategy Guide - GEP Community Server
... the exon at 54,816. While there are TopHat junctions suggesting both of these splice donor sites are possible (and both junctions have the same splice acceptor site), the splice site at 54,817-54,818 is supported by the SGP and Genscan gene predictions, the modENCODE RNA-Seq data and a medium qualit ...
... the exon at 54,816. While there are TopHat junctions suggesting both of these splice donor sites are possible (and both junctions have the same splice acceptor site), the splice site at 54,817-54,818 is supported by the SGP and Genscan gene predictions, the modENCODE RNA-Seq data and a medium qualit ...
An SMN-Dependent U12 Splicing Event Essential for Motor
... Mgat1, CG16941/Sf3a1, and CG11839/Znf830) that have both U12 introns and reduced expression in Drosophila smn mutants but only have U2 introns in the mouse homolog had normal expression in SMN-deficient NIH 3T3 cells (Figures 3E and S1G). Thus, SMN deficiency affects the expression of U12 intron-con ...
... Mgat1, CG16941/Sf3a1, and CG11839/Znf830) that have both U12 introns and reduced expression in Drosophila smn mutants but only have U2 introns in the mouse homolog had normal expression in SMN-deficient NIH 3T3 cells (Figures 3E and S1G). Thus, SMN deficiency affects the expression of U12 intron-con ...
Figure 1000G Allele Frequencies
... 25 codons (first 75 bp of translated cDNA) or within 5th percentile of the coding sequence length, then we looked for the next downstream in-frame start codon to translate the new protein (notice that this is a relaxed threshold compared with the one proposed in [30], i.e., first 30 bp of translated ...
... 25 codons (first 75 bp of translated cDNA) or within 5th percentile of the coding sequence length, then we looked for the next downstream in-frame start codon to translate the new protein (notice that this is a relaxed threshold compared with the one proposed in [30], i.e., first 30 bp of translated ...
Exon skipping and reading through stop codons
... exons could be skipped in this way. Some of the oligonucleotides added were still present after a month, thus they can cause skipping for a longer time. And that means that these potential drugs will possibly have to be applied not daily but in rather long time intervals. Single and multi-exon skipp ...
... exons could be skipped in this way. Some of the oligonucleotides added were still present after a month, thus they can cause skipping for a longer time. And that means that these potential drugs will possibly have to be applied not daily but in rather long time intervals. Single and multi-exon skipp ...
Mutation specific therapies
... translation (and thus only half a protein is made). Generally, there are additional signs that indicate to the protein factory that the translation into protein is almost complete (e.g. normal stop signals are located at the end of the mRNA and not in the middle). You can compare this with a stop si ...
... translation (and thus only half a protein is made). Generally, there are additional signs that indicate to the protein factory that the translation into protein is almost complete (e.g. normal stop signals are located at the end of the mRNA and not in the middle). You can compare this with a stop si ...
Types of RNA
... Transfer RNA (tRNA) is a small RNA chain of about 80 nucleotides that transfers a specific amino acid to a growing polypeptide chain at the ribosomal site of protein synthesis during translation. It has sites for amino acid attachment and an anticodon region for codon recognition that binds to a spe ...
... Transfer RNA (tRNA) is a small RNA chain of about 80 nucleotides that transfers a specific amino acid to a growing polypeptide chain at the ribosomal site of protein synthesis during translation. It has sites for amino acid attachment and an anticodon region for codon recognition that binds to a spe ...
Chapter 11 Transcription and RNA Processing
... Introns are removed from the pre-mRNA and are not present in the mRNA. Introns are variable in size and may be very large ( 50 bp to 3000 bp). Exons (both coding and noncoding sequences) are composed of the sequences that remain in the mature mRNA after splicing. The biological significance ...
... Introns are removed from the pre-mRNA and are not present in the mRNA. Introns are variable in size and may be very large ( 50 bp to 3000 bp). Exons (both coding and noncoding sequences) are composed of the sequences that remain in the mature mRNA after splicing. The biological significance ...
Alternative splicing
Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene. Consequently the proteins translated from alternatively spliced mRNAs will contain differences in their amino acid sequence and, often, in their biological functions (see Figure). Notably, alternative splicing allows the human genome to direct the synthesis of many more proteins than would be expected from its 20,000 protein-coding genes. Alternative splicing is sometimes termed differential splicing.Alternative splicing occurs as a normal phenomenon in eukaryotes, where it greatly increases the biodiversity of proteins that can be encoded by the genome; in humans, ~95% of multi-exonic genes are alternatively spliced. There are numerous modes of alternative splicing observed, of which the most common is exon skipping. In this mode, a particular exon may be included in mRNAs under some conditions or in particular tissues, and omitted from the mRNA in others.The production of alternatively spliced mRNAs is regulated by a system of trans-acting proteins that bind to cis-acting sites on the primary transcript itself. Such proteins include splicing activators that promote the usage of a particular splice site, and splicing repressors that reduce the usage of a particular site. Mechanisms of alternative splicing are highly variable, and new examples are constantly being found, particularly through the use of high-throughput techniques. Researchers hope to fully elucidate the regulatory systems involved in splicing, so that alternative splicing products from a given gene under particular conditions could be predicted by a ""splicing code"".Abnormal variations in splicing are also implicated in disease; a large proportion of human genetic disorders result from splicing variants. Abnormal splicing variants are also thought to contribute to the development of cancer.