MutationsMyotonic dystrophyMutationChromosomeHuntington'sGeneticPreferentiallyEncodesRecurrentlyAutosomalGenomeSomaticPutativeQuantitativeDeleteriousSubsetRecessivePhenotypeProteinDominant negativeDevelopmentalDisordersSingle-strandedHypothesisExpressionAllelesHeterozygositySequenceTranscriptionConsiderableAnalysisHumanMechanismClinicalCommonVariantsStrainsPopulationsDiseaseMultipleResultsPropertiesEssentialHigh
Mutations10
- In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
- Our study identified novel recurrent mutations at diagnosis in the BCORL1 gene in 9% of the patients. (bvsalud.org)
- Tumor suppressor gene (PHF6, TP53, and WT1) mutations were found to be associated with induction failure and shorter event-free survival, suggesting important roles of these alterations in resistance to therapy and disease progression. (bvsalud.org)
- Comparison of the mutational landscape at diagnosis and relapse revealed an enrichment of mutations in tumor suppressor genes (16.2% versus 44.4%) and transcription factors (35.1% versus 55.6%) at relapse. (bvsalud.org)
- In addition, the DNA in our own cells undergoes an estimated 30 new mutations during our lifetime, either through mistakes during DNA copying or cell division or, more often, because of damage from the environment. (dorak.info)
- Mutations in the C9orf72 gene are responsible for 30-40% of familial ALS cases in the United States and Europe. (medscape.com)
- For germline de novo mutations, we find significant enrichment of loss-of-function mutations in constrained genes (corrected- P = 0.0410) and deleterious mutations in presynaptic active zone genes (FDR = 0.0415). (nature.com)
- An analysis integrating single-cell RNA-sequencing data identifies a subset of excitatory neurons preferentially expressing the genes hit by deleterious mutations, which are also characterized by high expression of developmental disorder genes. (nature.com)
- In the analysis of postzygotic mutations, we observe significant enrichment of deleterious ones in developmental disorder genes ( P = 0.00135), including the SRCAP gene mutated in two unrelated probands. (nature.com)
- These data collectively indicate the contributions of both germline and postzygotic mutations to the risk of bipolar disorder, supporting the hypothesis that postzygotic mutations of developmental disorder genes may contribute to bipolar disorder. (nature.com)
Myotonic dystrophy3
- Anticipation is common in trinucleotide repeat disorders, such as Huntington's disease and myotonic dystrophy, where a dynamic mutation in DNA occurs. (wikipedia.org)
- For example, normal individuals have between 5 and 30 CTG repeats within the 3' UTR of DMPK, the gene that is altered in myotonic dystrophy. (wikipedia.org)
- citation needed] Diseases showing anticipation include: Autosomal dominant Several spinocerebellar ataxias Huntington's disease - CAG Myotonic dystrophy - CTG Dyskeratosis congenita - TTAGGG (telomere repeat sequence) Autosomal recessive Friedreich ataxia - GAA (Note: Friedreich ataxia does not usually exhibit anticipation because it is an autosomal recessive disorder. (wikipedia.org)
Mutation6
- However, meiotic instability could result in a dynamic mutation that increases the number of repeats in offspring inheriting the mutant allele. (wikipedia.org)
- The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. (elsevierpure.com)
- Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying mutation, an approach that is likely applicable to other trinucleotide repeat diseases. (elsevierpure.com)
- 2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
- Worldwide, approximately 20% of cases of familial ALS are due to a mutation in the Cu/Zn superoxide dismutase-1 gene ( SOD1 ). (medscape.com)
- Suppose we wish to know if a gene is present in the sample or not or does it contain some deletion or mutation. (geneticeducation.co.in)
Chromosome3
- and HYSP4 (300856), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene (300837). (beds.ac.uk)
- 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)
- We show that the Srs2 protein facilitates replication of hairpin-forming CGG/CCG repeats and prevents chromosome fragility at the repeat, whereas it does not affect replication of G-quadruplex forming sequences or a protein-bound repeat. (uthscsa.edu)
Huntington's2
- This is the case for Huntington's disease, where the trinucleotide repeat encodes a long stretch of glutamine residues. (wikipedia.org)
- Huntington's disease Hdh Q111 mice exhibit higher levels of somatic HTT CAG expansion on a C57BL/6 genetic background (B6.Hdh Q111 ) than on a 129 background (129.Hdh Q111 ). (elsevierpure.com)
Genetic8
- Together, these data identify Mlh1 and Mlh3 as novel critical genetic modifiers of HTT CAG instability, point to Mlh1 genetic variation as the likely source of the instability difference in B6 and 129 strains and suggest that MLH1 protein levels play an important role in driving of the efficiency of somatic expansions. (elsevierpure.com)
- Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
- These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
- Though there had been considerable between-study inconsistencies until recently, large-scale genome-wide association studies (GWAS) of common single-nucleotide polymorphisms (SNPs) in this decade have revealed several tens of genetic loci robustly associated with BD and have contributed to a better understanding of the genetic architecture of BD 3 , 4 . (nature.com)
- The natural populations from China with specific genetic characteristics enriched the gene pools of global A. thaliana collections. (biomedcentral.com)
- Further studies are needed to determine if recovery from this perturbation through gradual mixing of diverged populations by migration and gene flow leads to the pre-climate event state, or whether the observed changes represent a new genetic equilibrium. (biomedcentral.com)
- Genetic techniques help study genes, diseases and related mechanisms. (geneticeducation.co.in)
- genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
Preferentially1
- 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)
Encodes1
- The lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)
Recurrently2
- Targeted next-generation sequencing of 54 genes revealed 17 genes that were recurrently mutated in >5% of patients. (bvsalud.org)
- Third, we investigate genes recurrently hit by deleterious gDNMs in BD or a broad spectrum of neuropsychiatric/developmental disorders (DDs), including BD. (nature.com)
Autosomal1
- Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
Genome6
- Trinucleotide repeats are apparent in a number of loci in the human genome. (wikipedia.org)
- Clonal expansion of macrolide resistance occurred mostly within subtype 1 strains, of which clade T1-2 showed the highest recombination rate and genome diversity. (cdc.gov)
- Exome sequencing is a laboratory test designed to identify and analyze the sequence of all protein-coding nuclear genes in the genome. (nih.gov)
- R-loop, a three-stranded RNA/DNA structure, has been linked to induced genome in- stability and regulated gene expression. (escholarship.org)
- Thousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. (biomedcentral.com)
- It is essential for cell viability, being a key regulator of gene expression, cell proliferation, and stem cell renewal and an important factor for genome stability. (uthscsa.edu)
Somatic5
- in this case, the germ cells produced have a greater number of repeats than are found in the somatic tissues. (wikipedia.org)
- Crossing B6.Hdh Q111 mice onto an Mlh1 null background demonstrated that Mlh1 is essential for somatic CAG expansions and that it is an enhancer of nuclear huntingtin accumulation in striatal neurons. (elsevierpure.com)
- Hdh Q111 somatic expansion was also abolished in mice deficient in the Mlh3 gene, implicating MutLγ (MLH1-MLH3) complex as a key driver of somatic expansion. (elsevierpure.com)
- Strikingly, Mlh1 and Mlh3 genes encoding MMR effector proteins were as critical to somatic expansion as Msh2 and Msh3 genes encoding DNA mismatch recognition complex MutSβ (MSH2-MSH3). (elsevierpure.com)
- MLH1 mRNA and protein levels were significantly decreased in 129 mice compared to B6 mice, consistent with a dose-sensitive MLH1-dependent DNA repair mechanism underlying the somatic expansion difference between these strains. (elsevierpure.com)
Putative2
- We identified a putative recombination block containing 6 genes (MPN366‒371). (cdc.gov)
- 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)
Quantitative3
- Linkage mapping in (B6x129).Hdh Q111 F2 intercross animals identified a single quantitative trait locus underlying the strain-specific difference in expansion in the striatum, implicating mismatch repair (MMR) gene Mlh1 as the most likely candidate modifier. (elsevierpure.com)
- This research aims to obtain qualitative understanding and quantitative predictions of macroscopic properties of nanoporous materials to transmit solutes that undergo non-equilibrium adsorption and local electrochemical surface reactions at the fluid-solid interface. (escholarship.org)
- identification of quantitative trait loci influencing wood specific gravity in an outbred pedigree of loblolly pine. (liverpool.ac.uk)
Deleterious3
- citation needed] In order to have a deleterious effect, the number of repeats must cross a certain threshold. (wikipedia.org)
- Second, we construct a more comprehensive list of gDNMs in 354 BD trios and analyze the properties of the genes hit by deleterious gDNMs. (nature.com)
- Also, our analysis of the genes hit by deleterious gDNMs or pzDNMs in BD provides insights into its neurobiology, including biological pathways related to BD and neuronal cell types possibly playing a critical role in the disease etiology. (nature.com)
Subset1
- Thus, transcriptional profiles suggest that Lilliputian and Suppressor of Triplolethal are obligatory cofactors in the adult and that they can also function with Cyclin-dependent kinase 9 at a subset of loci. (sdbonline.org)
Recessive1
- 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)
Phenotype1
- Prior to the development of massively parallel sequencing (also known as next-generation sequencing ), the only cost-effective way to test more than one gene was serial single-gene testing (i.e., complete testing of one gene that might account for the phenotype before proceeding to testing of the next gene) ‒ an expensive and time-consuming approach with a potentially low yield. (nih.gov)
Protein3
- When the trinucleotide repeat is present within the protein-coding region, the repeat expansion leads to production of a mutant protein with gain of function. (wikipedia.org)
- 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)
- lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)
Dominant negative1
- fragile X) or many genes through a dominant negative effect (ex. (wikipedia.org)
Developmental1
- the gene encoding the monolignol biosynthetic enzyme cinnamyl alcohol dehydrogenase (cad, e.c. 1.1.1.195) can be expressed in response to different developmental and environmental cues. (liverpool.ac.uk)
Disorders2
- 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)
Single-stranded2
- When DSBs are repaired by homologous recombination, DNA ends can undergo extensive processing, producing long stretches of single-stranded DNA (ssDNA). (uthscsa.edu)
- DNA probes are short, single-stranded and labeled complementary oligonucleotide sequences used to hybridize with the target gene or sequence. (geneticeducation.co.in)
Hypothesis1
- One hypothesis is that the increasing number of repeats influences the overall shape of the DNA, which can have an effect on its interaction with DNA polymerase and thus the expression of the gene. (wikipedia.org)
Expression9
- When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found (ex. (wikipedia.org)
- Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
- Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
- Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
- These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
- 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)
Alleles1
- multiple alleles at qtl allow the examination of interaction among alleles at qtl (deviation from additive gene action). (liverpool.ac.uk)
Heterozygosity1
- We found that population turnover after 2003 led to a loss of allelic richness and gene diversity but not to significant changes in observed heterozygosity. (biomedcentral.com)
Sequence1
- DNA probes carry the information which we use to study a target sequence or gene. (geneticeducation.co.in)
Transcription1
- Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)
Considerable1
- Within all valleys, permanent and temporary streams in any given year were not differentiated, suggesting considerable gene flow and admixture between streams with differing hydroperiods. (biomedcentral.com)
Analysis1
- These include genes selected by a clinician for analysis by clinical sequencing. (nih.gov)
Human2
- Translocations between MLL (a human trithorax -related gene) and AF4 or AF5q31 are involved in acute lymphoblastic leukemia (Wittwer, 2001, Tang, 2001 and Su, 2001). (sdbonline.org)
- According to the GENCODE project one third of all human lncRNAs genes are primate-specific [ 4 ]. (biomedcentral.com)
Mechanism1
- citation needed] The mechanism behind the expansion of the triplet repeats is not well understood. (wikipedia.org)
Clinical1
- In the past ten years, improvements in massively parallel sequencing techniques have led to the development and widespread clinical use of multigene panels, which allow simultaneous testing of two to more than 150 genes. (nih.gov)
Common2
- These populations originated from a common ancestor, and a rapid demographic expansion began approximately 90,000 years ago. (biomedcentral.com)
- LncRNAs share a lot of common features with mRNAs, they are often capped, polyadenylated and undergo splicing. (biomedcentral.com)
Variants1
- While we were unable to detect any difference in base-base mismatch or short slipped-repeat repair activity between B6 and 129 MLH1 variants, repair efficiency was MLH1 dose-dependent. (elsevierpure.com)
Strains1
- The Mlh1 locus is highly polymorphic between B6 and 129 strains. (elsevierpure.com)
Populations1
- Slatkin [ 4 ] argued that local extinction and re-colonisation dynamics imply ongoing gene flow, which will prevent local populations from becoming differentiated. (biomedcentral.com)
Disease1
- however, a variable but measurable amount of AD pathologic changes exist in most cognitively intact elderly individuals who undergo autopsy, indicating that AD is a chronic disease with latent and prodromal stages and suggesting that individuals may have varying abilities to compensate, either biologically or functionally, for the presence of AD. (medscape.com)
Multiple1
- Upscaling techniques, such as homogenization via multiple-scale expansions, provide a framework to connect these two scale. (escholarship.org)
Results1
- These results suggest that transcriptional elongation control is especially important for rapidly expressed genes to support digestion and metabolism, many of which have sex-biased function. (sdbonline.org)
Properties1
- this reveals predominant R-loop formation near gene promoters with strong G/C skew and propensity to form G-quadruplex in non-template DNA, corroborating with all biochemically established properties of R-loops. (escholarship.org)
Essential1
- lilli functions as a maternally provided pair-rule gene that is essential for proper cellularization, gastrulation and segmentation during embryogenesis. (sdbonline.org)
High1
- 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)