• The mouse biliary glycoprotein gene (Bgp): partial nucleotide sequence, expression, and chromosomal assignment. (shengsci.com)
  • It is predicted that MCPH gene mutations may lead to the disease phenotype due to a disturbed mitotic spindle orientation, premature chromosomal condensation, signalling response as a result of damaged DNA, microtubule dynamics, transcriptional control or a few other hidden centrosomal mechanisms that can regulate the number of neurons produced by neuronal precursor cells. (biomedcentral.com)
  • A gene may have many alleles that reside at the same chromosomal location. (microbenotes.com)
  • We have generated high-resolution genome-wide maps of transformation, finding massive variation in rates at different chromosomal loci. (drexel.edu)
  • Protein sidekick-2 is a protein that in humans is encoded by the SDK2 gene. (wikipedia.org)
  • The protein encoded by this gene is a member of the immunoglobulin superfamily. (wikipedia.org)
  • This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. (wikipedia.org)
  • Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
  • Identification of putative transmembrane receptor sequences homologous to the calcium-sensing G-protein-coupled receptor. (shengsci.com)
  • Wdr12, a mouse gene encoding a novel WD-Repeat Protein with a notchless-like amino-terminal domain. (shengsci.com)
  • Identification of a novel family of targets of PYK2 related to Drosophila retinaldegeneration B (rdgB) protein. (embl.de)
  • The primary structures of Nirs reveal six putativetransmembrane domains, a region homologous to phosphatidylinositol (PI) transfer protein, and an acidic domain. (embl.de)
  • This is possible because a gene may produce a protein or RNA molecule that functions in several cellular or metabolic pathways. (microbenotes.com)
  • This gene produces the haemoglobin protein, which is in charge of transporting oxygen in red blood cells. (microbenotes.com)
  • Subsequently, we demonstrate that a single Cas9n-induced single-strand break can stimulate the insertion of the natural resistance-associated macrophage protein-1 ( NRAMP1 ) gene with reduced, but still considerable, off-target effects. (biomedcentral.com)
  • After a systematic selection of target sites and transgenic colonies, we successfully obtained nine exogenous natural resistance-associated macrophage protein-1 ( NRAMP1 ) gene-inserted cows through the Cas9n strategy. (biomedcentral.com)
  • First identified in Drosophila, the conserved Polycomb group (Pc-G) protein complexes were shown to be both writers (Polycomb Repressive Complex 2, PRC2) and readers (Polycomb Repressive Complex 1, PRC1) of H3K27me3 [ 19 , 20 , 21 ]. (biomedcentral.com)
  • The roles of b-catenin are 'classically' defined: as an adhesion protein and as a signaling protein, transducing extracellular signals to the nucleus to modify gene expression. (chemdiv.com)
  • Early studies reported that DOPAL synthase-like protein, alpha methyldopa resistant (AMD-r), in Drosophila is resistant to the toxic compound, AMD. (biomedcentral.com)
  • The effects of these mutations unexpectedly suggested that pairs of chromosomes might be interacting to control the activity of this gene. (elifesciences.org)
  • The authors deliberately induced a single DSB in one of the homologous chromosomes in a diploid yeast strain and achieved homologous recombination-based "loss of heterozygosity" events within 20 kb of the target site. (life-science-alliance.org)
  • The different variants of a gene located at the same location on homologous chromosomes are known as alleles or allelomorphs. (microbenotes.com)
  • H. influenzae , like many other pathogens, is naturally competent, able to actively transport environmental DNA through its cell membranes and incorporate homologous molecules into its chromosomes. (drexel.edu)
  • Prior to the first meiotic division, homologous chromosomes pair, synapse, and recombine to ensure their proper disjunction at anaphase I. Additionally, telomeres tethered at the nuclear envelope cluster in the bouquet configuration where they are subjected to dramatic pulling forces acting from outside of the nucleus. (biorxiv.org)
  • Expression complexity of the Otx2 locus: transcriptional, post-transcriptional and translational regulation of Otx2 mRNA isoforms control specification and maintenance of forebrain and midbrain regional identities. (cnr.it)
  • As docking units, they influence the recruitment of the transcriptional machinery, thus establishing unique gene expression patterns that ultimately promote different biological outcomes. (aging-us.com)
  • These participate in transcriptional/translational feedback loops and many homologous clock-components in the fruit fly Drosophila are also expressed in mammalian clock tissues with circadian rhythms. (bioone.org)
  • Furthermore, we highlight the molecular mechanisms involved the transcriptional repression of specific groups of Hox target genes, and summarize the role of Hox mediated gene silencing in tissue development. (bvsalud.org)
  • Although the transcriptional regulation of the Bdnf gene has been extensively studied in neurons, less is known about the regulation and function of BDNF in non-neuronal cells. (bvsalud.org)
  • Chromosome localization and genomic structure of the KiSS-1 metastasis suppressor gene (KISS1). (shengsci.com)
  • Recent studies indicate that CRISPR-induced DNA cuts may also result in the exchange of genetic information between homologous chromosome arms. (life-science-alliance.org)
  • Here, we show that in Drosophila , the detected Cas9-mediated editing events frequently resulted in germline-transmitted exchange of chromosome arms-often without indels. (life-science-alliance.org)
  • A haploid cell only has one allele, while a diploid cell might have either of the two alleles present on each homologous chromosome. (microbenotes.com)
  • We are now using advanced optical mapping technology to reproduce these maps in the absence of genetic variation, in order to disentangle the role of chromosome structure from the potential for genetic incompatibilities ("speciation genes") skewing our results. (drexel.edu)
  • Expression of one copy of wild type Gap1 under control of the sev enhancer/ promoter cassette ( sevGap1 ) rescues the complete loss-of-function eye phenotype, while creating no phenotypic defects when placed in a wild type background containing two copies of the endogenous Gap1 gene. (sdbonline.org)
  • Imprecise double-strand repair will introduce random mutations such as indels or point mutations, whereas precise editing will restore or specifically edit the locus as mandated by an endogenous or exogenously provided template. (life-science-alliance.org)
  • Further, we review the corresponding genes and the proteins encoded by these genes, their possible role in the developing brain and reported mutations of these genes. (biomedcentral.com)
  • The Nir/rdgB (N-terminal domain-interacting receptor/Drosophila retinal degeneration B proteins) family has been identified in a variety of eukaryotic organisms, ranging from worms to mammals. (embl.de)
  • The 72-amino acid TEA DNA binding domains in mTEAD-2, 3, and 4 are approximately 99% homologous to the same domain in mTEAD-1, and all four proteins bind specifically to the same DNA sequences in vitro with a Kd value of 16-38 nM DNA. (embl-heidelberg.de)
  • Extensive evidence has revealed that the core clock machinery involves "clock genes" and "clock proteins" functioning as molecular cogs. (bioone.org)
  • 10% transformation frequency), which reside in genes undergoing strong diversifying selection that encode large membrane proteins, likely as an immune invasion tactic. (drexel.edu)
  • The gene encoding these proteins is FANCM . (medscape.com)
  • Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)
  • used genome editing to make mutations in a stretch of DNA that regulates the gene involved in wing vein formation. (elifesciences.org)
  • Heterozygous null mutations in each autism gene are demonstrated to have normal baseline neurotransmission and PHP. (sdbonline.org)
  • A subsequent electrophysiology-based genetic screen identifies the first known heterozygous mutations that commonly genetically interact with multiple ASD gene orthologs, causing PHP to fail. (sdbonline.org)
  • For over a century, mutations in the yellow gene, named for its effects on pigmentation, have been known to reduce male mating success. (elifesciences.org)
  • Geneticists have long suggested that mutations in insect pigment genes cause changes in the fly's brain because these pigments are made from dopamine, a chemical messenger that acts in the brain. (elifesciences.org)
  • MCPH is inherited in an autosomal recessive pattern in which both copies of the gene in each cell have mutations. (biomedcentral.com)
  • Induction of mammary carcinomas in rats by nitroso-methylurea involves malignant activation of H-ras-1 locus by single point mutations. (wikidata.org)
  • The BLM mutations can be found in compound heterozygous forms, homozygous forms, or as single gene mutation forms. (medscape.com)
  • Over 60 mutations of the BLM gene have been found in Bloom syndrome. (medscape.com)
  • Furthermore, AtRAD54, which performs an important role in the homologous recombination repair pathway, was involved in the pairing of homologous loci with γ-irradiation. (nature.com)
  • [ 7 , 8 ] Sister chromatid exchanges are considered a sensitive indicator for cell genome instability, as they are thought to be the outcome of DNA double-strand breaks resulting from homologous recombination repair. (medscape.com)
  • The Streptococcus pyogenes Cas9 (SpCas9) nuclease can be efficiently targeted to genomic loci by means of singleguide RNAs (sgRNAs) to enable genome editing 1 - 10 . (cdc.gov)
  • Following crRNA and tracrRNA hybridization, SpCas9 is targeted to genomic loci matching a 20-nt guide sequence within the crRNA, immediately upstream of a required 5′-NGG protospacer adjacent motif (PAM) 11 . (cdc.gov)
  • including the two researchers involved in the 2015 work - have used a new active genetic element called a CopyCat element and more traditional genome editing to analyze the control of a gene that coordinates the formation of a simple structure in a fruit fly - a vein in the wing. (elifesciences.org)
  • Thus, we define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission. (sdbonline.org)
  • Role of Otx1 and Otx2 in brain evolution: functional equivalence between the invertebrate Orthodenticle and the murine OTX1 and OTX2 gene products supports a conserved genetic program of brain development between insects and mammals. (cnr.it)
  • CRISPR-Cas9-based genome editing has revolutionized genetic research, triggering the development of a plethora of technologies and applications that provide unprecedented control over genes in a growing list of model species ( 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ). (life-science-alliance.org)
  • When there are more than two different variants of a gene at a certain locus, multiple alleles, a type of genetic diversity, appear. (microbenotes.com)
  • Genetic mapping of arg, cpa, car and tsm genes in Saccharomyces cerevisiae by trisomic analysis. (wikidata.org)
  • 2002). Insertion-deletion polymorphisms in 3' regions of maize genes occur frequently and can be used as highly informative genetic markers. (geneticsmr.com)
  • The realisation of robust gene drive strategies in vertebrate pests has the potential to revolutionise biocontrol. (mdpi.com)
  • Isolation and expression analysis both in invertebrate and vertebrate embryos of a new homeobox containing gene named Orthopedia (Otp). (cnr.it)
  • Comparisons of vertebrate PSD and synaptogenesis genes with orthologues from sponges and cnidarians open an avenue for speculating as to what may have contributed to the origin of the first synapse. (nature.com)
  • Resolution of these problems has been approached in Drosophila by carrying out an in vivo functional analysis of Drosophila Gap1 in the context of cone cell determination in the developing Drosophila eye. (sdbonline.org)
  • Newer work is using the same approach to map the genes responsible for natural variation in other pathogenesis traits, including resistance to human complement-mediated killing, as well as investigating the possibility of identifying genes involved in in vivo pathogenesis in an animal model of otitis media. (drexel.edu)
  • We are applying a variety of genomic methods to identifying putative virulence genes, including machine learning and phylogenetic correlated evolution methods. (drexel.edu)
  • 2000). "Prediction of the coding sequences of unidentified human genes. (wikipedia.org)
  • The complete sequences of the galago and rabbit beta-globin locus control regions: extended sequence and functional conservation outside the cores of DNase hypersensitive sites. (shengsci.com)
  • Structural and biochemical comparisons between DOPAL synthase and DDC in Drosophila identified that the key active site residue, Asn192, in insect DOPAL synthase can be used to distinguish all available insect DOPAL synthases from DDC sequences [ 15 ]. (biomedcentral.com)
  • Although an sgRNA design consisting of a truncated crRNA and tracrRNA had been previously shown to mediate efficient cleavage in vitro 12 , it failed to achieve detectable cleavage at several loci that were efficiently modified by crRNA-tracrRNA duplexes bearing identical guide sequences 1 . (cdc.gov)
  • We also found that DNA double-strand breaks (DSBs) induce the approach of the homologous loci with γ-irradiation. (nature.com)
  • Moreover, the distance between two homologous loci in the interphase nucleus was shortened by γ-irradiation, which induces DNA double-strand breaks (DSBs). (nature.com)
  • We revealed that the homologous loci kept a constant three-dimensional distance in the nucleus using live-cell imaging with a bacterial operator/repressor system. (nature.com)
  • an unexpected, maladaptive up-regulation of CREG , a conserved, neuronally expressed, stress response gene and a novel repressor of PHP. (sdbonline.org)
  • Its sequence, when compared to those of members of the human carcinoembryonic antigen gene family, was most homologous to the sequence of the human biliary glycoprotein (BGP) gene. (shengsci.com)
  • The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. (shengsci.com)
  • As a result, modifications to the gene sequence may affect a variety of biological functions, producing pleiotropic effects. (microbenotes.com)
  • Despite substantial advances in mapping quantitative trait loci, the identification of the quantitative trait genes and ultimately the sequence variants has proved more difficult, so that our information on the molecular basis of quantitative variation remains limited. (epistasisblog.org)
  • Role of unequal crossing-over in the evolution of ribosomal genes. (cnr.it)
  • Our results suggest that the transient reduction in inter-allelic distance and increase in pairing frequency of homologous loci after DSB result in partial chromatin reorganisation of interphase nuclei and that AtRAD54 contributes to the subcellular movement of homologous loci in the HR repair pathway. (nature.com)
  • Isolation and characterization of alternative messenger RNAs coding class I HLA genes. (cnr.it)
  • 1999). Characterization of single-nucleotide polymorphisms in coding regions of human genes. (geneticsmr.com)
  • 2004). Genome diversity and gene haplotypes in the grapevine (Vitis vinifera L.), as revealed by single nucleotide polymorphisms. (geneticsmr.com)
  • In 2015, researchers reported that they had used components of the CRISPR/Cas9 genome editing system to edit genes so that they could propagate in a "Super-Mendelian" fashion. (elifesciences.org)
  • Here, we report the first application of single Cas9 nickase (Cas9n) to induce gene insertion at a selected locus in cattle. (biomedcentral.com)
  • Here, we investigated four potential Bdnf enhancer regions and based on reporter gene assays, CRISPR/Cas9 engineering and CAPTURE-3C-sequencing we conclude that a region 840 kb upstream of the Bdnf gene regulates catecholamine-dependent expression of Bdnf in rodent astrocytes. (bvsalud.org)
  • We found that AtRAD54, which performs an important role in the homologous recombination (HR) repair pathway, was involved in the approach of two homologous loci under γ-irradiation. (nature.com)
  • Thus, this repair pathway causes a major safety problem for gene targeting strategies, particularly for gene therapy and transgenic animal production [ 15 , 16 ]. (biomedcentral.com)
  • This pathway, called "natural transformation," is a major mechanism of gene transfer across bacteria and has a profound effect on genome evolution, including spreading antibiotic resistances and other virulence determinants. (drexel.edu)
  • Proviral infection at the "site of the highest degree" was thought to be the mechanism of carcinogenesis, giving the first name to the gene found along this pathway as INT1. (chemdiv.com)
  • Expression analysis of several Hox genes in human embryos. (cnr.it)
  • Molecular mechanism controlling the expression of the HOX Complex gene family in human teratocarcinoma cells (N-tera2/D1). (cnr.it)
  • Isolation of the murine homologs of the otd and ems homeobox containing genes and analysis of their expression during brain development. (cnr.it)
  • Isolation and expression analysis in murine embryos of Dlx5 and Dlx6, two murine homologues of the Drosophila Distal-less gene. (cnr.it)
  • To introduce altered Drosophila Gap1 transgenes into flies, the sevenless ( sev ) enhancer/promoter cassette, an eye-specific promoter, was used to drive expression in cone cell precursors at appropriate levels. (sdbonline.org)
  • Thus, the onset of zygotic gene expression (ZGE) is regulated at the level of both transcription and translation. (embl-heidelberg.de)
  • Nevertheless, available data indicate that many variants lie outside genes, presumably in regulatory regions of the genome, where they act by altering gene expression. (epistasisblog.org)
  • Housekeeping genes in the FSCN1 - ACTB (F-A) locus (Fig. 1a ) have relatively steady expression levels across various tissues and thus exogenous gene silencing resulting from chromatin inactivation might be avoided. (biomedcentral.com)
  • The compact architecture of heterochromatin limits the accessibility of the transcription machinery to the embedded DNA, thereby silencing gene expression. (biomedcentral.com)
  • In contrast, the 'facultative' heterochromatin corresponds to the deposition of H3K27me3 on gene-rich regions, whose silencing is transient and dynamic across developmental processes, allowing cell type-specific differentiation and rapid adaptation of gene expression [ 5 ]. (biomedcentral.com)
  • In this study, we characterized gene expression profiles of DOPAL synthase and investigated its functions in larvae and female adults of Aedes agypti by RNAi. (biomedcentral.com)
  • We generated a set of sgRNAs targeting multiple sites within the human EMX1 and PVALB loci with different tracrRNA 3′ truncations ( Fig. 1a ). (cdc.gov)
  • Fluorescence in situ hybridisation (FISH) and immunofluorescence staining has been mainly used to analyse the gene localization and chromatin distribution in nuclei of A. thaliana . (nature.com)
  • Here, we examined chromatin dynamics and arrangement in living roots of A. thaliana with DNA damage, focusing our attention on the distance between homologous loci using the lacO /LacI-EGFP system. (nature.com)
  • Additional screens for MMTV provirus entry sites in tumors revealed several other upregulated genes that are associated with other gene development pathways such as INT2, INT3, and INT4 [4,5,6]. (chemdiv.com)
  • At the population level, there are several alleles, but an individual can only have two alleles for a specific gene. (microbenotes.com)
  • Haploid organisms and cells only have one copy of a gene, but the population can still have many alleles. (microbenotes.com)
  • Pleiotropy refers to the phenomenon in which one gene influences several attributes, wherein one allele may cause a variety of phenotypic features in several alleles. (microbenotes.com)
  • Bloom syndrome (congenital telangiectatic erythema) is caused by a mutation in both alleles of the gene designated BLM, traced to band 15q26.1. (medscape.com)
  • The yellow flies had a mutation in one specific gene and these mutants did not only look different from normal flies, they behaved differently too. (elifesciences.org)
  • Structural organization of the human prostaglandin EP3 receptor subtype gene (PTGER3). (shengsci.com)
  • These genes were uncovered on the basis of similarity to the DNA binding domain [ ( PUBMED:9504043 ) ] of Mus musculus (Mouse) Brachyury (T) gene product, which similarity is the defining feature of the family. (embl-heidelberg.de)
  • 2. Can natural transformation be exploited to map pathogenesis genes? (drexel.edu)
  • We report here the structural organization of the human EP3 gene (PTGER3). (shengsci.com)
  • The human EP3 gene spanned more than 80 kb and was composed of 10 exons separated by nine introns. (shengsci.com)
  • In addition, the potential for these genes to perform various cognitive roles during human brain evolutionary processes is discussed. (biomedcentral.com)
  • Finally, the Nir1-encoding gene is located at human chromosome17p13.1, in proximity to a locus responsible for several human retinal diseases. (embl.de)
  • Isolation and identification of the structural organization of the human homeobox gene family (HOX Complex). (cnr.it)
  • therefore, it is also important for gene regulation and DNA replication in A. thaliana as well as other organisms. (nature.com)
  • We focus in this review on the ectoderm and mesoderm to highlight new findings and discuss them with regards to established concepts of Hox target gene regulation. (bvsalud.org)
  • This study identified a set of common phenotypic modifiers that interact with five independent autism gene orthologs [RIMS1 ( Rim ), CHD8 ( Kismet ), CHD2 ( Chd1 ), WDFY3 ( Blue cheese ), ASH1L ( ASH1 )] causing a common failure of presynaptic homeostatic plasticity (PHP) in Drosophila. (sdbonline.org)
  • Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. (wikipedia.org)
  • We argue that the distribution of effect size of common variants is the same for all phenotypes regardless of species, and we discuss the importance of epistasis, pleiotropy, and gene by environment interactions. (epistasisblog.org)
  • 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)
  • In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
  • Selective gene silencing is key to development. (biomedcentral.com)
  • Our findings demonstrate that DOPAL synthase plays a critical role in mosquito larval development and adult survival and suggest that DOPAL synthase could be a good candidate gene in RNAi intervention strategies in mosquito control. (biomedcentral.com)
  • In this review article, we discuss the clinical manifestations of autosomal recessive primary microcephaly (MCPH), its incidence, and molecular genetics, including a comprehensive review of the twelve known mapped loci (MCPH1-MCPH12). (biomedcentral.com)
  • Kandel, E. R. The molecular biology of memory storage: a dialogue between genes and synapses. (nature.com)
  • Simultaneous work in the field of developmental biology and work with Drosophila has established the INT1 gene is a homologue of the Drosophila segment polarity gene [2]. (chemdiv.com)
  • The gene that causes sickle cell anaemia is one instance of pleiotropy. (microbenotes.com)
  • However, a gene mutation causes an abnormal form of haemoglobin to be produced in people with sickle cell anaemia. (microbenotes.com)
  • It was revealed that homologous loci kept a constant distance in nuclei of A. thaliana roots in general growth. (nature.com)