GeneticAutosomal dominantAlleleMutationMutationsHuntingtin geneHuntington'sProtein codinAllelesPutative2019PolyglutaminePhenotypicMolecularMRNAContrastProteinsGeneticsKnockdownExpressionSingleHumanPromoterProcessesIdentifyMechanismsAnalysisStrainsGenomicNormalPatientRegionsStudyShowCarrierOriginFoundGroupMembersDiseaseAssociation
Genetic8
- Diversity and genetic stability in banana genotypes in a breeding program using inter simple sequence repeats (ISSR) markers. (geneticsmr.com)
- Huntington's disease is a genetic neurological disorder caused by a repeated expansion of the CAG trinucleotide, causing instability in the N-terminal of the gene coding for the Huntingtin protein. (benthamscience.com)
- The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
- The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
- In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
- Yet age of onset can vary by several decades in people carrying the same length polyglutamine expansion, and a large proportion of this residual variation is genetic in nature and may be due to polymorphisms in other genes [ 12 - 15 ]. (biomedcentral.com)
- Genetic disorders result from new or inherited gene mutations . (amboss.com)
- genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
Autosomal dominant2
- Huntington's disease (HD) is the most prevalent autosomal dominant, trinucleotide repeat neurodegenerative disease. (grantome.com)
- Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). (geneticsmr.com)
Allele1
- Because HD is an inherited disease, we expected that the mutant allele will differ from wild-type by at least a single nucleotide polymorphism, thereby offering a target for gene silencing by RNAi. (grantome.com)
Mutation5
- The huntingtin gene encodes a protein of 350 kD;the disease causing mutation is an expansion of an amino-terminal polyglutamine repeat of more than 36 successive glutamines. (grantome.com)
- YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. (geneticsmr.com)
- The mutation leads to the abnormal expansion of the production of the polyglutamine tract (polyQ) resulting in the form of an unstable Huntingtin protein commonly referred to as mutant Huntingtin. (benthamscience.com)
- Mutant Huntingtin is the cause of the complex neurological metabolic alteration of Huntington's disease, resulting in both the loss of all the functions of normal Huntingtin and the genesis of abnormal interactions due to the presence of this mutation. (benthamscience.com)
- METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
Mutations2
- I am particularly interested in the effects of mutations and polymorphisms on protein function since these studies can identify underlying pathologies and potential therapies. (cardiff.ac.uk)
- We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
Huntingtin gene1
- Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)
Huntington's3
- REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. (geneticsmr.com)
- Altered ERK1/2 and PDK1 phosphorylation have been described in Huntington's disease (HD), characterized by the expression of mutant huntingtin (mhtt) and striatal degeneration. (biomedcentral.com)
- Huntington's disease (HD) is a neurodegenerative disorder caused by a dominantly heritable expansion of a trinucleotide CAG repeat in the huntingtin (htt) gene [ 15 ], and characterized by the preferential neurodegeneration of striatal medium-sized spiny neurons [ 16 ]. (biomedcentral.com)
Protein codin1
- By contrast, many protein-coding genes transcribed by Pol II contain in their gene bodies exclusively CG methylation that is independent of small RNAs and Pol IV/Pol V activities. (biomedcentral.com)
Alleles6
- Innovations include targeting mRNA alleles for RNAi, use of HD mouse models that express only human huntingtin genes, quantitative measurement of huntingtin allelic mRNA based on SNP heterozygosities, deep sequencing analysis to identify 3 UTR huntingtin mRNA regulation, and zinc finger nuclease strategy to eliminate huntingtin alleles at the genomic level. (grantome.com)
- The considered normal alleles have less than 27 CAG repeats. (geneticsmr.com)
- Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. (geneticsmr.com)
- All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
- In a population of 250 individuals , there will be a total of 500 gene copies (all individuals carry two alleles of a gene ). (amboss.com)
- multiple alleles at qtl allow the examination of interaction among alleles at qtl (deviation from additive gene action). (liverpool.ac.uk)
Putative1
- in contrast to simple family structures reported for a variety of angiosperm nsltp genes, the putative pine nsltp gene is a member of a complex family. (liverpool.ac.uk)
20193
- Using MassHealth administrative data, the authors conducted a repeated cross-sectional study of MassHealth members enrolled in ACOs during 2015-2019. (bvsalud.org)
- 2019. Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression . (cardiff.ac.uk)
- 2019. Effect of trinucleotide repeat expansion on the expression of TCF4 mRNA in Fuchs' endothelial corneal dystrophy . (cardiff.ac.uk)
Polyglutamine2
- When the CTG expansion is present, a polyglutamine mutant protein is produced. (wikipedia.org)
- For example in HD, the age of neurological onset is strongly associated with the length of polyglutamine (polyQ) expansion in huntingtin protein. (biomedcentral.com)
Phenotypic2
- It allows users to obtain, visualize and prioritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types of data obtained from human samples or model organisms. (nature.com)
- First, these approaches are designed to identify individual modifier genes with strong phenotypic effects. (biomedcentral.com)
Molecular1
- Aim 2 investigates in post-mortem HD brain post- transcriptional regulation of huntingtin mRNA, to find molecular processes that favor synthesis of mutant huntingtin mRNA. (grantome.com)
MRNA1
- Further demonstrating that expressed CRP genes lack gene body methylation, a CRP4-GFP fusion gene under the control of the constitutive 35 S promoter remains unmethylated in leaves and is transcribed to produce a translatable mRNA. (biomedcentral.com)
Contrast2
- In contrast, interactions between genes and the environment cannot usually be studied using conventional mapping populations in which each animal is unique. (nervenet.org)
- By contrast, a CRP4-GFP fusion gene under the control of a CRP4 promoter fragment acquires CG and non-CG methylation in the CRP coding region in leaves similar to the silent endogenous CRP4 gene. (biomedcentral.com)
Proteins1
- Numerous cellular proteins detect DNA damage and induce senescence , a permanent change of state characterized by morphological and gene expression changes. (massgenomics.org)
Genetics1
- Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)
Knockdown1
- We hypothesize that selective knockdown of mutant huntingtin restores normal neuronal function, but excessive silencing impairs neuronal function by interfering with essential signaling events. (grantome.com)
Expression9
- Thus demonstrated, our core idea is that RNA silencing is useful to selectively reduce mutant huntingtin expression and slow or block neuronal dysfunction and death in HD. (grantome.com)
- In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
- We now know those structures are very relevant to many critical biological processes like gene regulation, expression of telomerase and telomere maintenance, understanding of growth/oncogenes like C-myc, understanding of organismic development, comprehension of certain enigmatic diseases like ALS and possible new cancer treatments. (anti-agingfirewalls.com)
- Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)
- Unlike CG methylation in gene bodies, which does not dramatically affect Pol II transcription, combined CG and non-CG methylation in CRP coding regions is likely to contribute to gene silencing in leaves because loss of this methylation in synergid cells is associated with CRP gene expression. (biomedcentral.com)
- control of cad gene expression could involve either differential regulation of more than one cad gene or, alternatively combinatorial regulation of a single cad gene. (liverpool.ac.uk)
- xylem-specific gene expression in loblolly pine. (liverpool.ac.uk)
- We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
- Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)
Single3
- Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
- Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
- In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)
Human5
- Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene. (wikipedia.org)
- GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 8 Human ATXN8OS genome location and ATXN8OS gene details page in the UCSC Genome Browser. (wikipedia.org)
- It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)
- Thousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. (biomedcentral.com)
- According to the GENCODE project one third of all human lncRNAs genes are primate-specific [ 4 ]. (biomedcentral.com)
Promoter1
- Heat can affect their coming and going, and their presence near promoter elements can block gene activation. (anti-agingfirewalls.com)
Processes1
- The large number of genes and the diversity of processes involved in the progression of neurological diseases in general, and HD in specific, emphasizes the need for comprehensive approaches in additional to studies of individual genes 14 . (nature.com)
Identify1
- In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
Mechanisms2
- This proposal satisfies NINDS goals in translational science: translation of gene silencing therapeutics, early-state therapy development, and identifying mechanisms that underlie nervous system function. (grantome.com)
- This proposal addresses treatment of HD through study of basic mechanisms of silencing the gene that causes the disease. (grantome.com)
Analysis1
- We performed a methylation-sensitive amplification polymorphism analysis to search for targets of RNA-directed DNA methylation in Arabidopsis thaliana and identified several members of a gene family encoding cysteine-rich peptides (CRPs). (biomedcentral.com)
Strains1
- RI strains can therefore be exploited to expose gene-environment interactions. (nervenet.org)
Genomic1
- two genes preferentially expressed in differentiating xylem of loblolly pine (pinus taeda l.) were cloned from cdna and genomic libraries and designated ptx3h6 and ptx14a9. (liverpool.ac.uk)
Normal1
- Presumably the expansion interferes with normal antisense function of this transcript. (wikipedia.org)
Patient1
- In addition, 437 genes show DNAm aberrance status in high TMB patient group and 99 have been reported as its association with lung cancer. (biomedcentral.com)
Regions1
- In leaves, the CRP genes are silent and their coding regions contain dense, transposon-like methylation in CG, CHG and CHH contexts, which depends partly on the Pol IV/Pol V pathway and small RNAs. (biomedcentral.com)
Study1
- We will study safety, in brain, of the molecules that initiate gene silencing. (grantome.com)
Show1
- Knock-in striatal cells expressing full-length mutant huntingtin (mhtt) (STHdh Q111/Q111 ) show increased levels of active PDK1 [ 17 ] and reduced levels of ERK1/2 activity [ 18 ] compared with striatal cells expressing wild-type htt (STHdh Q7/Q7 ). (biomedcentral.com)
Carrier1
- Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
Origin1
- We discuss this unusual methylation pattern and its alteration in synergid cells as well as the possible retrogene origin and evolutionary significance of CRP genes that are methylated like transposons. (biomedcentral.com)
Found2
- Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
- Moreover, we found that elevated Rsk activity in STHdh Q111/Q111 cells was mainly due to PDK1 activity, as assessed by transfection with Rsk mutant constructs. (biomedcentral.com)
Group1
- Here we report on a group of atypical genes that display in their coding region a transposon-like methylation pattern, which is associated with gene silencing in sporophytic tissues. (biomedcentral.com)
Members1
- lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)
Disease1
- In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
Association1
- CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)