• Proband blood lymphocyte DNA underwent paired-end Whole Exome Sequencing (WES) using the Illumina SureSelect kit and HiSeq2500 sequencer, with data pipeline analysis. (spuonline.org)
  • This is the list of genes included in Whole Exome Sequencing (all 20,000 human genes). (bredagenetics.com)
  • Extranuclear inheritance or cytoplasmic inheritance is the transmission of genes that occur outside the nucleus. (wikipedia.org)
  • Uniparental inheritance occurs in extranuclear genes when only one parent contributes organellar DNA to the offspring. (wikipedia.org)
  • Biparental inheritance occurs in extranuclear genes when both parents contribute organellar DNA to the offspring. (wikipedia.org)
  • We summarise the evidence for the adaptive importance of cytoplasmic genes before detailing coadaptation between the cytoplasm and the nucleus, and amongst cytoplasmic components. (nature.com)
  • The genes encoding ribosomal RNAs are located one after another in tandem and are repeated several hundred times, so we use new generation sequencing to estimate the frequency of occurrence of SNPs in the genome of one organism. (icgbio.ru)
  • Interestingly, a few deafness-related genes with distinct phenotypes exist depending on the genotype and inheritance pattern. (biomedcentral.com)
  • The aim of this study was to elucidate the inheritance of rust resistance and fertility restoration and identify the chromosome location of the underlying genes in Rf ANN-1742. (usda.gov)
  • The advantage of such an introduced alien segment harboring two genes is its large phenotypic effect and simple inheritance thereby facilitating their rapid deployment in sunflower breeding programs. (usda.gov)
  • The lack of restorer lines for the newly identified male-sterility led us to predict that it might be a complete cytoplasmic male-sterility without restorer-of-fertility genes in nuclear genomes. (springer.com)
  • The male sterilizing factors are produced by recombination of the mitochondrial genome and consist of unusual genes or open reading frames (ORFs) that usually contain a portion of functional mitochondrial genes and sequences of unknown origin ( Hanson and Bentolila, 2004 ). (frontiersin.org)
  • In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)
  • Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)
  • Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. (strangeindia.com)
  • Genes are sequences of DNA that contain instructions for the cell that must be carefully controlled because it is not always appropriate or safe for these instructions to be followed. (elifesciences.org)
  • In this review, we examine the diversity and peculiarities of cytoplasmically inherited genomes, and the broad evolutionary consequences that non-Mendelian inheritance brings. (nature.com)
  • Finally, we discuss how both nuclear and cytoplasmic genomes have evolved to co-inhabit the same host cell via one of the longest symbiotic processes, and all the opportunities for intergenomic conflict that arise due to divergence in inheritance patterns. (nature.com)
  • We assembled genomes of two widely used PGC strains, 1A-D1628 and 74-D694, using Oxford Nanopore MinION sequencing data. (icgbio.ru)
  • Based on mitotype-specific markers and mitotype-variant ORFs, four main cytoplasmic haplotypes were identified in our groups corresponding the nap , pol , ole , and cam mitotypes, among which the structure of chloroplast genomes was more conserved without any rearrangement than mitochondrial genomes. (biomedcentral.com)
  • Based on whole-genome variants diversity analysis, eleven genetic difference regions among different cytoplasmic haplotypes were identified on chloroplast genomes. (biomedcentral.com)
  • Besides, the organelle pan-genomes and the overall variation data offered useful resources for analysis of cytoplasmic inheritance related agronomical important traits of rapeseed, which can substantially facilitate the cultivation and improvement of rapeseed varieties. (biomedcentral.com)
  • Thus, mitochondrial genomes do not undergo the shuffling and recombination that the maternal and paternal nuclear genomes do, and the sequence of mitochondrial DNA remains consistent through generations unless mutations of copying accidents occur. (cornell.edu)
  • Using exome sequencing and genome sequencing, we document four novel DYNC2H1 pathogenic variants, and one variant previously reported in five unrelated cases of nonsyndromic progressive IRD. (nature.com)
  • Allgrove syndrome or Triple A (AAA) syndrome (online mendelian inheritance in man [OMIM] number 231550) is a rare autosomal recessive disease characterized by alacrima, achalasia of the esophageal cardia, and adrenal failure first described by Allgrove et al in 1978. (medscape.com)
  • Allgrove syndrome has an autosomal recessive pattern of inheritance. (medscape.com)
  • Autosomal recessive inheritance pattern. (medscape.com)
  • Although mental retardation and hyperpigmentation in the parents or grandparents of patients have been reported, these are not common or consistent findings and are not expected with autosomal recessive inheritance. (medscape.com)
  • Allgrove syndrome appears to have an autosomal recessive pattern of inheritance. (medscape.com)
  • The mitochondrial DNA of the sperm often remains outside the zygote and gets excluded from inheritance. (wikipedia.org)
  • Very rare cases which require further investigation have been reported of paternal mitochondrial inheritance in humans, in which the father's mitochondrial genome is found in offspring. (wikipedia.org)
  • An example of biparental mitochondrial inheritance is in the yeast Saccharomyces cerevisiae. (wikipedia.org)
  • The studies of poky mutants were among the first to establish an extranuclear mitochondrial basis for inheritance of a particular genotype. (wikipedia.org)
  • Subsequently, the primary defect in the poky mutants was determined to be a deletion in the mitochondrial DNA sequence encoding the small subunit of mitochondrial ribosomal RNA. (wikipedia.org)
  • Despite high interest to different sturgeon species, acipenserid ITS1 and ITS2 sequences are missing in the GenBank depository, and most sturgeon population studies are performed using mitochondrial markers. (icgbio.ru)
  • Mitochondrial DNA differs from nuclear DNA in its sequence, quantity in the cell, and mode of inheritance. (cornell.edu)
  • Albert B, Godelle B, Gouyon PH (1998) Evolution of the plant mitochondrial genome: dynamics of duplication and deletion of sequences. (springer.com)
  • Bonhomme S, Budar F, Ferault M, Pelletier G (1991) A 2.5 kb Nco I fragment of Ogura radish mitochondrial DNA is correlated with cytoplasmic male-sterility in Brassica cybrids. (springer.com)
  • The mechanisms of uniparental inheritance from species to species differ greatly and are quite complicated. (wikipedia.org)
  • We first explore the origins of vertical transmission and uniparental inheritance, before detailing the vast diversity of cytoplasmic inheritance systems across Eukaryota. (nature.com)
  • We begin by outlining the origins of cytoplasmic inheritance and the evolution of uniparental inheritance, documenting the diversity of cytoplasmic inheritance systems so far observed. (nature.com)
  • A classic example of uniparental gene transmission is the maternal inheritance of human mitochondria. (wikipedia.org)
  • Nuclear genome sequence and gene expression of an intracellular fungal endophyte stimulating the growth of cranberry plants. (umontreal.ca)
  • Summary: Comparative genomics remains a pivotal strategy to study the evolution of gene organization, and this primacy is reinforced by the growing number of full genome sequences available in public repositories. (omictools.com)
  • Bentolila S, Alfonso AA, Hanson MR (2002) A pentatricopeptide repeat-containing gene restores fertility to cytoplasmic male-sterile plants. (springer.com)
  • Brown GG, Formanova N, Jin H, Wargachuk R, Dendy C, Patil P, Laforest M, Zhang J, Cheung WY, Landry BS (2003) The radish Rfo restorer gene of Ogura cytoplasmic male sterility encodes a protein with multiple pentatricopeptide repeats. (springer.com)
  • Patients with Allgrove syndrome (type 2 FGD) have no mutations in the coding sequence or the promoter region of this receptor gene. (medscape.com)
  • Thus, 15 plastomes were newly sequenced and combined with published plastomes to study plastome structural variations, gene evolution, phylogenetic relationships, and divergence times of this tribe. (biomedcentral.com)
  • Definition In most cases, a pseudogene can be considered as the ancient extra copy of a preexisting protein-coding gene (called parental gene), that undergoes a process of pseudogenization by disruption to its sequence due to accumulation of deleterious mutations. (bredagenetics.com)
  • The result is usually a 'nonfunctional gene' with high sequence homology with the parental gene. (bredagenetics.com)
  • OMIM (Online Mendelian Inheritance in Man) database lists non-Mendelian disorders as well. (tripod.com)
  • They are historically thought to inherit maternally, but paternal inheritance in many species is increasingly being identified. (wikipedia.org)
  • Furthermore, evidence for diversity in inheritance patterns (paternal or biparental) of CIEs started accumulating for a wide range of taxa (Birky 2001 ). (nature.com)
  • But, in the cross of P. limbata × P. nil, the possibility of biparental inheritance of plastid DNA could not be roled out in our preliminary experiment. (jipb.net)
  • In tobacco (Nicotiana tabacum), the mode of chloroplast inheritance is affected by the temperature and the enzymatic activity of an exonuclease during male gametogenesis. (wikipedia.org)
  • Cytoplasmic male sterility (CMS) is a widespread phenotype in plants, which present a defect in the production of functional pollen. (frontiersin.org)
  • Intrafamilial cosegregation of the mutations with the hearing phenotype was confirmed in both families by the Sanger sequencing. (hindawi.com)
  • Our study expanded the mutation spectrums of TMC1 and MYO15A and illustrated that genotype-phenotype correlation in combination with next-generation sequencing may improve the accuracy for genetic diagnosis of deafness. (hindawi.com)
  • We characterize the mechanisms and, using RNA sequencing, chimeric worms, and sequence polymorphism between different isolates, identify endogenous small RNAs which, similarly to exogenous siRNAs, are inherited in a nucleus-independent manner. (bvsalud.org)
  • Vegetative segregation results from random replication and partitioning of cytoplasmic organelles. (wikipedia.org)
  • By 1952, the evidence of various forms of cytoplasmically inherited elements (CIEs) had grown, leading Joshua Lederberg to synthesise the inheritance of cellular organelles and symbionts into one framework in his treatise "Cell genetics and hereditary symbiosis" (Lederberg 1952 ). (nature.com)
  • This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. (lu.se)
  • We used the two sequence characterized amplified region (SCAR) markers (CRF-SCAR and CMS-SCAR) in CMS pepper, to identify the genotype. (geneticsmr.com)
  • Interestingly, cytoplasmic genetic elements have been shown to have very different inheritance patterns to classic Mendelian nuclear chromosomes. (nature.com)
  • Cytoplasmic genetic elements are generally maternally inherited, although there are several exceptions where these are paternally, biparentally or doubly-uniparentally inherited. (nature.com)
  • A new high-density genetic linkage map was constructed by using specific locus amplified fragment sequencing technology. (frontiersin.org)
  • Diversity and genetic stability in banana genotypes in a breeding program using inter simple sequence repeats (ISSR) markers. (geneticsmr.com)
  • Although many genetic studies have been performed over the past century, the inheritance of the multiflorous spikelet trait is not fully understood in oat. (geneticsmr.com)
  • Most heritable information in eukaryotic cells is encoded in the nuclear genome, with inheritance patterns following classic Mendelian segregation. (nature.com)
  • The first documented evidence for this came from Carl Correns research on the four o'clock plant Mirabilis jalapa , in which he detailed the non-Mendelian inheritance of leaf colour (Correns 1909 ). (nature.com)
  • Inheritance, in this case, was strictly maternal: a seed derived from an ovule from a non-green stem gave rise to non-green progeny, irrespective of the source of pollen. (nature.com)
  • Parental samples confirmed asymptomatic maternal inheritance in two of these males. (spuonline.org)
  • Poky is a mutant of the fungus Neurospora crassa that has extranuclear inheritance. (wikipedia.org)
  • Characterizing and marker-assisting a novel chili pepper (Capsicum annuum L.) yellow bud mutant with cytoplasmic male sterility. (geneticsmr.com)
  • We suggest that asymmetric segregation of V-ATPase may cause distinct acidification levels in the two daughter cells, enabling asymmetric epigenetic inheritance that specifies their respective life-versus-death fates. (elifesciences.org)
  • Creating sequence-expression-activity maps accelerates the optimization of many protein systems and allows previous measurements to quantitatively inform future designs. (omictools.com)
  • They shared extensive sequence identity and contained a single, long ORF encoding a 4815 aa protein. (microbiologyresearch.org)
  • 72 hours following co-transfection, C2C12 cytoplasmic:nuclear ratio spreading assays were performed on fibronectin-coated plates at 20, 40 and 60 minutes and protein was extracted for WB analysis. (spuonline.org)
  • The PPR protein family is consequently divided in subfamilies depending on the number and type of repeats present in their sequence as well as optional C-terminal domains. (frontiersin.org)
  • In Allgrove syndrome, the functional defect may reside in the ALADIN protein, which can be involved in either cytoplasmic trafficking or in normal peroxisomal function. (medscape.com)
  • The RNA-binding protein Ataxin-2 binds to and stabilizes numerous mRNA sequences, together with that of the transactive response DNA binding protein 43 kDa (TDP-43). (ataxin.com)
  • Restriction Fragment Length Polymorphisms:" The differences in homologous DNA sequences that are reflected in differing lengths of DNA fragments produced when the DNA is cut by restriction enzymes. (freezingblue.com)
  • 3 When no pathogenic variant is identified, exome sequencing or genome sequencing may help uncover the variants missed by panel-based screening. (nature.com)
  • As the common IRD variants have largely been identified, exome sequencing or genome sequencing identify rare variants that require functional validation. (nature.com)
  • Here, we identified two WFS1 heterozygous variants in three DFNA6/14/38 families using exome sequencing. (biomedcentral.com)
  • We then combined the search algorithm with system-level kinetic modeling, requiring the construction and characterization of 73 variants to build a sequence-expression-activity map (SEAMAP) for a biosynthesis pathway. (omictools.com)
  • As the second largest hybrid crop in the world, hybrid sunflowers are developed by using the PET1 cytoplasmic male sterility system that contributes a 20% yield advantage over the open-pollinated varieties. (usda.gov)
  • Selection of nuclear genotypes associated with the thermo-sensitivity of Owen-type cytoplasmic male sterility in sugar beet (Beta vulgaris L. (springer.com)
  • Bannerot H, Loulidard L, Cauderon MY, Tempe J (1974) Transfer of cytoplasmic male sterility from Raphanus sativus to Brassica oleracea . (springer.com)
  • Cytoplasmic male sterility (CMS) has been characterized in over 140 natural species ( Laser and Lersten, 1972 ). (frontiersin.org)
  • Cytoplasmic male sterility (CMS) in pepper is a better way to produce hybrid seeds compared to manual production. (geneticsmr.com)
  • It is best to be aware of these definitions while sticking with the recommendations of the Human Genome Variation Society and to use ' sequence variant ' , ' alteration ' or ' allelic variant ' for any genomic change regardless of their frequency or phenotypic effects. (tripod.com)
  • The inheritance of plastid DNA in Pharbitis was studied by the method of restriction fragment length polymorphisms (RFLP). (jipb.net)
  • The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. (dogwellnet.com)
  • The mechanisms of paternal plastids DNA inheritance in Pharbitis is unclear. (jipb.net)
  • We discuss the diversity and patterns of genome organisation for cytoplasmic elements and examine the population genetics of CIEs, highlighting the tension between within- and between-individual spread. (nature.com)
  • There were known sequence variations before the term SNP was first used but they were called different things. (tripod.com)
  • The re-annotation also utilises sequence data from additional Campylobacter strains and species not available during the original annotation. (omictools.com)
  • The scope of studies ranges from those focused-on sequencing, mass spectrometry, bioimaging and other high-through-put techniques in data to medicine, pharmacology, and populational studies. (nih.gov)
  • 13 ] used restriction site-associated DNA sequencing (RAD-seq) data and constructed a highly resolved maximum likelihood (ML) tree of Aiouea and the Ocotea complex, but the other clades of tribe Cinnamomeae were not sampled. (biomedcentral.com)
  • In: Expressed sequence tags - generation and analysis, Methods in Molecular Biology Vol. 533 (J. Parkinson, ed. (umontreal.ca)
  • Preliminary Analysis of Cytoplasmic Genome of Diploid Somatic Hybrid Derived from Fusion Between Rough Lemon and Hamlin Sweet Orange [J]. J Integr Plant Biol. (jipb.net)
  • Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing. (strangeindia.com)
  • A set of 723 simple sequence repeat (SSR) DNA markers of sunflower was used to identify polymorphic markers (markers that are different) between HA 89 and the resistant plant. (usda.gov)
  • Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. (nature.com)
  • afterwards, this variant sequence may have significantly expanded to cultivated groups, thereby improving adaptation during the domestication process. (biomedcentral.com)
  • In this review, we describe the diversity of inheritance systems of CIEs, and highlight the evolutionary consequences that these inheritance systems bring to cellular, organismal and population dynamics (Fig. 1 ). (nature.com)
  • Symbiotic cytoplasmic bacteria are also inherited in organisms such as insects and protists. (wikipedia.org)
  • It may be less common than uniparental extranuclear inheritance, and usually occurs in a permissible species only a fraction of the time. (wikipedia.org)
  • Microdissection of Haynaldia villosa Telosome 6VS and Cloning of Species-specific DNA Sequences [J]. J Integr Plant Biol. (jipb.net)
  • To improve our understanding of this important human pathogen, the C. jejuni NCTC11168 genome was sequenced and published in 2000. (omictools.com)
  • The opposing cell fates of daughter cells, i.e., to live or die, offer a compelling experimental system for investigating how epigenetic inheritance determines life versus death decisions during ACD. (elifesciences.org)
  • We developed a computational approach to build predictive models and identify optimal sequences and expression levels, while circumventing combinatorial explosion. (omictools.com)
  • Function by locating a specific base sequence in the DNA and cutting there. (freezingblue.com)