Whole-genomeChromosomeGenomicGeneticAmino acidsDatasetsRefSeqExonsGenomesChromosomesSubfamiliesEncodesIntrinsically disordered regionsRecombinationInteractionsMutations have been describedPutativeRegulateTranscriptionPhenotypesClass of proteinsDrosophilaDuplicate genesGenome instabilityCellularExpressionMetricsRegulatoryMutationNucleotideCas9TranscriptionalPlasma membraneFunctionalEukaryoticOften contain polyDemonstrateRecessiveRegulationSystematicTargetsCDNAHumanAmplificationNuclear localizationSimilarityElegansEvolutionarilyApoptosisPolymeraseCharacterization
Whole-genome9
- After a whole genome duplication, there is a relatively short period of genome instability, extensive gene loss, elevated levels of nucleotide substitution and regulatory network rewiring. (wikipedia.org)
- Whole genome duplications are thought to be less detrimental than aneuploidy as the relative dosage of individual genes should be the same. (wikipedia.org)
- We report a fatal aspergillosis case in which STR Af typing and whole-genome sequencing substantiated in vivo emergence of an azole-resistant Aspergillus fumigatus with a 120-bp tandem repeat in the promoter region of cyp51A . (cdc.gov)
- The finding was substantiated by whole-genome sequencing (WGS). (cdc.gov)
- [3] After whole genome duplications many sets of additional genes are eventually lost, returning to singleton state. (ipfs.io)
- Insights into Platypus Population Structure and History from Whole-Genome Sequencing [3] "The platypus is an egg-laying mammal which, alongside the echidna, occupies a unique place in the mammalian phylogenetic tree. (edu.au)
- This study demonstrates the power of whole-genome sequencing for studying natural populations of an evolutionarily important species. (edu.au)
- Patrick Short from Matthew Hurles' group at the Wellcome Sanger Institute investigated the de novo mutation rate in regulatory elements using over 10,000 whole genome sequencing samples from the Deciphering Developmental Disorders (DDD) study and found that de novo mutations (DNMs) in these individuals are enriched within the ultra-conserved elements and these variants may contribute to 1-3% of subjects without a diagnostic finding. (biomedcentral.com)
- The precise delineation of breakpoints by whole-genome sequencing enables the construction of local genomic architecture and facilitates the prediction of the molecular determinants of the patient's phenotype. (biomedcentral.com)
Chromosome9
- The genes encoding the red- and green-color-detecting proteins of the human eye are located next to one another on the X chromosome and probably evolved from a common ancestral pigment gene. (quizlet.com)
- In mice, the Sry gene is located on the Y chromosome very close to one of the pseudoautosomal regions that pairs with the X chromosome during male meiosis. (quizlet.com)
- Spinal muscular atrophy type 1 (SMA1) is the most common genetic cause of death in infants resulting from bi-allelic mutations of the survival motor neuron gene (SMN1, telomeric), located on chromosome 5q13.2. (asgct.org)
- Although monotremes share a XX female/XY male sex chromosome system with other mammals, their sex chromosomes show homology to the chicken Z chromosome, including the DMRT1 gene, which is a dosage-dependent sex determination gene in birds. (edu.au)
- Interestingly, human X chromosome and its bird counterpart Z chromosome retain a much higher number of autosomal genes than the Y and W chromosomes in humans and birds, respectively. (biomedcentral.com)
- Furthermore, X chromosome dosage is a major determinant of sex-biased autosomal gene expression, potentially explaining the many disorders where penetrance or expressivity may vary between individuals of different sexes. (biomedcentral.com)
- Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
- Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
- For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
Genomic5
- We used bisulfite genomic sequencing to examine patterns of GSTP1 promoter CpG island methylation in laser capture microdissected benign, PIA, PIN, and CaP regions from 32 subjects that underwent radical prostatectomy. (bvsalud.org)
- Download DNA or protein sequence, view genomic context and coordinates. (yeastgenome.org)
- We show that these four genes in the adult platypus have the same expression pattern as in other mammals, suggesting that they have a conserved role in sexual development independent of genomic location. (edu.au)
- Extremely lethal consequences of IR causes double-strand breaks, which are mainly responsible for genomic instability, altered gene expression, and cell death. (biomedcentral.com)
- However in recent years with the development of epigenesis, genomic imprinting and the horizontal transferences of the genes, Lamarck's ideas have resurfaced. (intechopen.com)
Genetic14
- Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. (wikipedia.org)
- Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. (wikipedia.org)
- Replication slippage is an error in DNA replication that can produce duplications of short genetic sequences. (wikipedia.org)
- In chapter 2, by using CRISPR/Cas9 gene editing, genetic analysis and biochemical assays, I identified the differential pairings of typical NLR receptor SOC3 with atypical NLR proteins CHS1 or TN2 to guard the homeostasis of the E3 ligase SAUL1. (ubc.ca)
- The aim of this study was to determine the genetic variation between and within the different populations of C. caulescens, to determine whether gene flow occur between the different populations and to determine which of the DNA regions included in the study can contribute to the identification of plants from a specific geographical area. (ndltd.org)
- This was a particular milestone as Luxturna is not only the first directly administered in vivo gene therapy approved in the United States but also the first approval to target a genetic disease and the first to use AAV. (asgct.org)
- Dr. Kathy High who will deliver the George Stamatoyannopoulos lecture at the upcoming Annual Meeting will provide an overview of the development and future directions of AAV gene therapy strategies to treat genetic diseases. (asgct.org)
- Gene duplications are an essential source of genetic novelty that can lead to evolutionary innovation. (ipfs.io)
- Duplication creates genetic redundancy, where the second copy of the gene is often free from selective pressure - that is, mutations of it have no deleterious effects to its host organism. (ipfs.io)
- Interaction annotations are curated by BioGRID and include physical or genetic interactions observed between at least two genes. (yeastgenome.org)
- Recessively inherited deletions/duplications and point mutations in the parkin gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the PINK1 gene are found to explain early-onset parkinsonism. (biomedcentral.com)
- Exons and flanking regions were sequenced, and segregation patterns of genetic variation were assessed in members of the respective families. (biomedcentral.com)
- Taking a different approach based on gene expression, Pejman Mohammadi (of the Scripps Research Institute, formerly at the New York Genome Center) presented work utilizing allele-specific gene expression data to identify genetic regulatory outliers in a cohort of patients with muscular dystrophy using Analysis of Expression Variance- Dosage Outlier Test (ANEVA-DOT). (biomedcentral.com)
- They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
Amino acids2
- The hallmark of the family is a domain of approximately 260 amino acids that has a high degree of sequence similarity in all sirtuins. (biomedcentral.com)
- somewhat similar sequences of about 110 amino acids each. (wikipedia.org)
Datasets1
- Similar to the focus on structural variation as opposed to SNV's in protein coding genes, there were a number of excellent talks defining variation in non-coding regions from genome sequencing datasets of different patient populations. (biomedcentral.com)
RefSeq1
Exons2
- An exon dosage analysis was performed for all exons in both genes. (biomedcentral.com)
- The human GR protein is produced from 9 exons of the GR gene and is composed of 3 major subdomains, each of which has specific structural and functional properties. (brainimmune.com)
Genomes2
- Comparisons of genomes demonstrate that gene duplications are common in most species investigated. (wikipedia.org)
- To provide new insights into the dispersal and demographic history of this iconic species, we sequenced the genomes of 57 platypuses from across the whole species range in eastern mainland Australia and Tasmania. (edu.au)
Chromosomes2
- A normal-visioned woman (with both genes present on each of her two X chromosomes) has a red color-blind son who was shown to have one copy of the green-detecting gene and no copies of the red-detecting gene. (quizlet.com)
- In the second keynote address, David Page (Whitehead Institute) investigated overlapping sets of genes retained on sex chromosomes over the course of evolution from autosomes (see Fig. 1 ). (biomedcentral.com)
Subfamilies4
- Phylogenetic analysis showed similar numbers of AQPs clustered in five distinct subfamilies including the plasma membrane intrinsic proteins (PIPs), the tonoplast intrinsic proteins (TIPs), the nodulin 26-like intrinsic proteins (NIPs), the small basic intrinsic proteins (SIPs), and the uncharacterized intrinsic proteins (XIPs). (biomedcentral.com)
- Protein structure evaluation showed a hydrophilic aromatic/arginine (ar/R) selectivity filter (SF) in PIPs whereas other subfamilies mostly contained a hydrophobic ar/R SF. (biomedcentral.com)
- Eleven putative hsp70 genes could be detected in P. caudatum comprising homologs of three major Hsp70-subfamilies. (biomedcentral.com)
- They are classified, according to their sequence similarities rather than functions, into CYP gene families (>40% homology) and subfamilies (>59% homology). (bvsalud.org)
Encodes3
- SUSA2 encodes an F-box protein Actin-Related Protein 8 (ARP8) and SUSA3 encodes the chaperone protein HSP90.3. (ubc.ca)
- We show that the Caenorhabditis elegans egl-2 gene encodes an eag K + channel and that a gain-of-function mutation in egl-2 blocks excitation in neurons and muscles by causing the channel to open at inappropriately negative voltages. (jneurosci.org)
- This locus, however, also encodes a protein from an alternative reading frame, designated p19ARF. (medscape.com)
Intrinsically disordered regions1
- A substantial portion of the regulatory interactions in the higher eukaryotic cell are mediated by simple sequence motifs in the regulatory segments of genes and (pre-)mRNAs, and in the intrinsically disordered regions of proteins. (biomedcentral.com)
Recombination1
- Ectopic recombination is typically mediated by sequence similarity at the duplicate breakpoints, which form direct repeats. (wikipedia.org)
Interactions2
- Interestingly, functionally redundant SNIPER1 and SNIPER2 can control the protein levels of diverse sNLRs and the interactions between SNIPER1 and sNLRs appear to be through the common nucleotide-binding (NB) domains of sNLRs. (ubc.ca)
- Studying protein-protein interactions involving Rasd1 may provide insights into its biological functions in different contexts. (biomedcentral.com)
Mutations have been described1
- Rare mutations have been described in genes involved in ovarian development and/or function such as FSHR (MIM 136435), LHCGR (MIM 152790), BMP15 (MIM 300247), POF1B (MIM 300603), NOBOX (MIM 610934), INHA (MIM 147380), GDF9 (MIM 601918), NR5A1 (MIM 184757), and FIGLA (MIM 608697) and in meiotic genes [ 9 - 23 ]. (hindawi.com)
Putative2
- The number of putative Regulators (genes that regulate it) and Targets (genes it regulates) for the given locus, based on experimental evidence. (yeastgenome.org)
- In the PINK1 gene we identified two novel putative pathogenic substitutions, P416R and S419P, located in a conserved motif of the serine/threonine kinase domain. (biomedcentral.com)
Regulate2
- 1) Characterize novel families of oncoproteins (Pbx and Meis) that dimerize with and regulate the DNA binding properties of Hox proteins. (stanford.edu)
- One protein that has been identified to bind to and regulate the renin enhancer is Ear2 [ 13 ]. (biomedcentral.com)
Transcription12
- Rapid evolution and functional divergence have been observed at the level of the transcription of duplicated genes, usually by point mutations in short transcription factor binding motifs. (wikipedia.org)
- These are frequently activated by fusion to other transcriptional proteins resulting in chimeric transcription factors. (stanford.edu)
- We demonstrate here that GSK-3 maintains the MLL leukemia stem cell transcriptional program by promoting the conditional association of CREB and its coactivators TORC and CBP with homedomain protein MEIS1, a critical component of the MLL-subordinate program, which in turn facilitates HOX-mediated transcription and transformation. (stanford.edu)
- This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)
- A comparison of their known functions has identified, besides a common role within protein folding, multiple roles for the cyclophilins within pre-mRNA splicing and cellular signalling, and within transcription and cell cycle regulation for the parvulins. (biomedcentral.com)
- Ear2 is an orphan nuclear hormone receptor that belongs to the chicken ovalbumin upstream promoter-transcription factors (COUP-TF) gene family [ 14 ]. (biomedcentral.com)
- We observe that each gene and its products have a unique set of DNA, RNA or protein motifs that encode a regulatory program to define the logical circuitry that guides the life cycle of these biomolecules, from transcription to degradation. (biomedcentral.com)
- The life of a gene product, from transcription to degradation, is controlled by a series of regulatory decisions. (biomedcentral.com)
- The CDK4-cyclinD complex normally phosphorylates the retinoblastoma protein (Rb protein), leading to release of the E2F transcription factor and cell cycle progression. (medscape.com)
- Programmable DNA binding proteins have emerged as an exciting platform for engineering synthetic transcription factors for modulating endogenous gene expression 5 - 11 . (cdc.gov)
- Among the established custom DNA binding domains, Cas9 is most easily scaled to facilitate genome-scale perturbations 3 , 4 due to its simplicity of programming relative to zinc finger proteins and transcription activator-like effectors (TALEs). (cdc.gov)
- Cas9 nuclease can be converted into an RNA-guided DNA binding protein (dCas9) via inactivation of its two catalytic domains 12 , 13 and then fused to transcription activation domains. (cdc.gov)
Phenotypes2
- Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)
- Click "Phenotype Details" to view all phenotype annotations and evidence for this locus as well as phenotypes it shares with other genes. (yeastgenome.org)
Class of proteins3
- The peptidyl-prolyl cis / trans isomerase (PPIase) class of proteins is present in all known eukaryotes, prokaryotes, and archaea, and it is comprised of three member families that share the ability to catalyze the cis / trans isomerisation of a prolyl bond. (biomedcentral.com)
- The peptidyl-prolyl cis / trans isomerase (PPIase) class of proteins is traditionally comprised of three distinct protein families, the cyclophilins (cyclosporin A binding proteins), FKBPs (FK506 binding proteins) and parvulins, that are linked by their shared ability to catalyse the bond preceding a proline residue between its cis and trans forms. (biomedcentral.com)
- This article is about the class of proteins. (wikipedia.org)
Drosophila4
- Tissue specificity of alternative splicing products of mouse mRNA encoding new protein hampin homologous to the Drosophila MSL-1 protein]. (nih.gov)
- In Drosophila, the single Nanos gene (Nos) is required for development of the abdomen as well as for germ line maintenance [ 31 , 32 ]. (hindawi.com)
- Because they were first described in Drosophila melanogaster larvae that were accidentally exposed to elevated temperatures [ 2 ], these stress-related proteins were called heat-shock proteins (Hsps). (biomedcentral.com)
- The Otx1 and Otx2 genes are two murine orthologues of the Orthodenticle ( Otd ) gene in Drosophila . (biologists.com)
Duplicate genes1
Genome instability1
- The BRCA2 R3052W mutated protein exacerbates genome instability, is unable to rescue homology-directed repair, and fails to complement cell survival following exposure to PARP inhibitors and crosslinking drugs. (frontiersin.org)
Cellular7
- During cellular invasion by a replicating retroelement or retrovirus, viral proteins copy their genome by reverse transcribing RNA to DNA. (ipfs.io)
- If viral proteins aberrantly attach to cellular mRNA, they can reverse transcribe copies of genes to create retrogenes. (ipfs.io)
- Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
- MicroRNA (miRNA) is endogenous, short, non-coding RNA molecules of almost 22 nucleotides play a role in regulating cellular processes and regulating several genes' expression. (bvsalud.org)
- GO Annotations consist of four mandatory components: a gene product, a term from one of the three Gene Ontology (GO) controlled vocabularies ( Molecular Function , Biological Process , and Cellular Component ), a reference, and an evidence code. (yeastgenome.org)
- Heat-shock proteins of the 70 kDa family (Hsp70s) are essential chaperones required for key cellular functions. (biomedcentral.com)
- Extensive research on Hsps revealed also a constitutive expression of some members of these proteins, suggesting that they are also essential in maintaining the cellular functions under normal physiological conditions. (biomedcentral.com)
Expression21
- Expression of recombinant human zona pellucida protein 2 and its binding capacity to spermatozoa. (nih.gov)
- green fluorescent protein (GFP) fusions revealed egl-2 expression in a subset of neurons and muscles that could explain the mutant behavioral defects. (jneurosci.org)
- 2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)
- CART was assessed using immunohistochemistry (IHC) and in situ hybridization (ISH), and its gene expression was identified by RTqPCR. (bvsalud.org)
- RTqPCR analysis also validated the immunohistochemical data and gene expression, which both indicated low to moderate expression in prostatic tissues. (bvsalud.org)
- Expression data are derived from records contained in the Gene Expression Omnibus (GEO) , and are first log2 transformed and normalized. (yeastgenome.org)
- Information about the hsp70 copy number and diversity in microbial eukaryotes is, however, scarce, and detailed knowledge about the differential gene expression in most protists is lacking. (biomedcentral.com)
- All other groups showed comparatively high basal expression levels and moderate heat-inducibility, signifying constitutively expressed genes. (biomedcentral.com)
- Comparative EST analyses for P. tetraurelia hsp70 s unveiled a corresponding expression pattern, which supports a functionally conserved evolution of the Hsp70 gene family in Paramecium . (biomedcentral.com)
- The environmental stress response in all organisms as diverse as pro- and eukaryotes is generally coupled with a remarkable change in gene expression patterns and an enhanced synthesis of several 'stress proteins' [ 1 ]. (biomedcentral.com)
- Cross-species analysis of autosomal gene expression across 12 tissues identified over 2,700 gene-tissue pairs with conserved sex-biased gene expression. (biomedcentral.com)
- This study evaluated the effect of matrix metalloproteinases-2 (MMP-2) gene silencing using MMP-2 shRNA expression plasmids (pMMP-2) on IR induced cytotoxicity and DNA damage by MTT, dead green, γH2AX and comet assays in human normal dermal fibroblasts (HDFs) and MCF-7 human breast cancer cells. (biomedcentral.com)
- The aim of the present investigation is to study the effect of MMP-2 gene silencing by transfection of MMP-2 shRNA expression plasmids (pMMP-2on radiation-induced DNA damage in human normal dermal fibroblasts (HDFs) and MCF-7 cells. (biomedcentral.com)
- The sequences of the constructs were first gene-optimized for vector expression and synthesized, representing in total 186 expression clones. (europa.eu)
- Upon depletion of RBPJ using CRISPR/Cas9, we observed specific upregulation of Notch target gene expression. (mdpi.com)
- This is largely a result of the complex effects of breakpoints on gene structure, function and expression. (biomedcentral.com)
- TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
- Systematic interrogation of gene function requires the ability to perturb gene expression in a robust and generalizable manner. (cdc.gov)
- The signature of our top screening hits is significantly correlated with gene expression data from clinical melanoma samples. (cdc.gov)
- However, it is difficult to capture the complexity of transcript isoform variance using these libraries, and large cDNA sequences are often difficult to clone into size-limited viral expression vectors. (cdc.gov)
- These dCas9-activator fusions targeted to the promoter region of endogenous genes can then modulate gene expression 7 - 11 . (cdc.gov)
Metrics1
- To facilitate analysis of this type of non-coding variation dataset, the group is now developing a non-coding constraint metric (parallel to the constraint metrics for protein coding genes). (biomedcentral.com)
Regulatory2
- Wendy Bickmore (University of Edinburgh) described the role of regulatory variation in developmental genes in Mendelian diseases. (biomedcentral.com)
- Finally, we contrast the regulatory properties of protein motifs and the regulatory elements of DNA and (pre-)mRNAs, advocating that co-regulation, co-operativity, and motif-driven regulatory programs are common mechanisms that emerge from the use of simple, evolutionarily plastic regulatory modules. (biomedcentral.com)
Mutation6
- The BRCA2 R3052W mutation fails to complement chemotherapeutic sensitivity and homology-directed repair functions in BRCA2 knockout cells. (frontiersin.org)
- 2017 continued to be a landmark year for gene therapy with the announcement on December 19, that the FDA approved Luxturna (voretigene neparvovec-rzyl) for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. (asgct.org)
- If one copy of a gene experiences a mutation that affects its original function, the second copy can serve as a 'spare part' and continue to function correctly. (ipfs.io)
- Some examples of such neofunctionalization is the apparent mutation of a duplicated digestive gene in a family of ice fish into an antifreeze gene and duplication leading to a novel snake venom gene [4] and the synthesis of 1 beta-hydroxytestosterone. (ipfs.io)
- The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology. (hindawi.com)
- Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)
Nucleotide1
Cas91
Transcriptional2
- We are studying the effects and consequences of protein fusion on the transcriptional and transforming activities of these proteins using in vitro and animal models. (stanford.edu)
- HDACs are grouped into three classes on the basis of their homology to yeast transcriptional repressors. (biomedcentral.com)
Plasma membrane2
- Biosynthesis of glycosylphosphatidylinositol (GPI) is required for anchoring proteins to the plasma membrane, and is essential for the integrity of the fungal cell wall. (nature.com)
- GPI biosynthesis is a conserved process, required for anchoring proteins to the plasma membrane of fungi and thus essential for the integrity of the fungal cell wall in yeasts and molds 4 . (nature.com)
Functional3
- Localization and functional importance of a conserved zona pellucida 2 protein domain in the human and bovine ovary using monoclonal anti-ZP2 peptide antibodies. (nih.gov)
- We demonstrated that the ligand binding domain of Ear2 is required for physical and functional interaction between the two proteins. (biomedcentral.com)
- [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
Eukaryotic2
- Therefore, we have characterised the Hsp70 gene family of Paramecium caudatum to gain insight into the evolution and differential heat stress response of the distinct family members in protists and to investigate the diversification of eukaryotic hsp70 s focusing on the evolution of heat-inducibility. (biomedcentral.com)
- Prokaryotic Hsp70 (DnaK) proteins share about 50% amino acid identity with eukaryotic Hsp70s. (biomedcentral.com)
Often contain poly1
- Resulting sequence usually lack introns and often contain poly, sequences that are also integrated into the genome. (wikipedia.org)
Demonstrate1
- The two proteins demonstrate 76 percent homology in their amino acid sequences. (quizlet.com)
Recessive1
- Exon dosage analysis confirmed the recessive pattern of inheritance with heterozygous deletions segregating in healthy family members. (biomedcentral.com)
Regulation6
- Many retrogenes display changes in gene regulation in comparison to their parental gene sequences, which sometimes results in novel functions. (wikipedia.org)
- Interestingly, genes involved in regulation are preferentially retained. (wikipedia.org)
- Thus, a link seems to exist between gene regulation (at least at the post-translational level) and genome evolution. (wikipedia.org)
- Data show that complete removal of paternally expressed gene 3 (PEG3) resulted in up-regulation of male-specific lethal 1 (Msl1) and male-specific lethal 3 (Msl3). (nih.gov)
- We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
- Achieving systematic, genome-scale perturbations within intact biological systems is important for elucidating gene function and epigenetic regulation. (cdc.gov)
Systematic1
- 3, 137-155 (1996) REFERENCE 9 AUTHORS Fujita,N., Mori,H., Yura,T. and Ishihama,A. TITLE Systematic sequencing of the Escherichia coli genome: analysis of the 2.4-4.1 min (110,917-193,643 bp) region JOURNAL Nucleic Acids Res. (nig.ac.jp)
CDNA1
- In mutant mice in which both copies of the Otx1 gene were replaced with a human Otx2 cDNA ( hOtx2 1 / hOtx2 1 ) , most of the defects associated with Otx1 −/ − mutants were rescued. (biologists.com)
Human3
- Luxturna developed by Spark Therapeutics uses an adeno-associated virus (AAV) vector to deliver the normal human RPE65 gene to retinal cells. (asgct.org)
- Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
- Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)
Amplification1
- Of the initial five regions that were sequenced, trnL-F amplification failed repeatedly, and this region was therefore excluded from all analyses. (ndltd.org)
Nuclear localization1
- BRCA2 nuclear localization and export sequences are listed. (frontiersin.org)
Similarity1
- Replication slippage is also often facilitated by repetitive sequences, but requires only a few bases of similarity. (wikipedia.org)
Elegans1
- Recent studies yielded a first direct estimate of the genome-wide rate of gene duplication in C. elegans, the first multicellular eukaryote for which such as estimate became available. (wikipedia.org)
Evolutionarily3
- The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. (hindawi.com)
- Members of the evolutionarily conserved Nanos gene family are preferentially expressed in the ovaries and are known to play an important role in germ cell development, maintenance, and survival [ 24 - 30 ]. (hindawi.com)
- Phylogenetic analyses revealed five evolutionarily distinct Hsp70-groups, each with a closer relationship to orthologous sequences of Paramecium tetraurelia than to another P. caudatum Hsp70-group. (biomedcentral.com)
Apoptosis1
- The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
Polymerase1
- The expectation is that these patterns may also subsequently allow recognition of patterns that will implicate specific cancer treatments e.g. homology-directed repair deficiency and response to polyADP ribose polymerase (PARP) inhibition. (biomedcentral.com)