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  • protein
  • Duplication in Amyloid precursor protein (APP) locus (duplicated segment varies in length but includes APP) on Chromosome 21 was found to cause early onset familial Alzheimer's disease in a French family set (Rovelet-Lecrux et al. (wikipedia.org)
  • Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1. (nih.gov)
  • IL-21 is an important regulator of plasma cell differentiation, and it controls the master regulator of plasma cell differentiation, B lymphocyte-induced maturation protein-1 (BLIMP-1), via STAT3 and IRF4. (jimmunol.org)
  • The C21orf62 protein in humans has a sequence that is 219 amino acids in length. (wikipedia.org)
  • The protein structure of C21orf62 in humans consists of a combination of alpha helices and beta sheets. (wikipedia.org)
  • Table 3 shows a range of C21orf62 orthologs, their NCBI accession numbers, sequence lengths, and sequence identity to the C21orf62 human protein. (wikipedia.org)
  • The protein has been predicted to localize in the nucleus, and possesses a cut signal peptide at amino acid 21. (wikipedia.org)
  • Proline-rich protein 21 (PRR21) is a protein of the family of proline-rich proteins. (wikipedia.org)
  • The NDUFB10 protein weighs 21 kDa and is composed of 172 amino acids. (wikipedia.org)
  • Deletions
  • Nearly all (>99.9%) of these sites are small differences, either single nucleotide polymorphisms or brief insertion-deletions in the genetic sequence, but structural variations account for a greater number of base-pairs than the SNPs and indels. (wikipedia.org)
  • When the chromosome's structure is altered, this can take several forms: Deletions: A portion of the chromosome is missing or deleted. (wikipedia.org)
  • sequence
  • We have mapped the association of the estrogen receptor (ER) with the complete nonrepetitive sequence of human chromosomes 21 and 22 by combining chromatin immunoprecipitation (ChIP) with tiled microarrays. (nih.gov)
  • The mRNA sequence of C21orf62 in humans has one known isoform. (wikipedia.org)
  • This isoform is 458 base pairs, or 104 amino acids, in length, and it is significantly shorter than the most observed sequence of C21orf62 in humans. (wikipedia.org)
  • On average, in DNA sequence, each human is 99.5% similar to any other human. (wikipedia.org)
  • occur
  • Alleles occur at different frequencies in different human populations, with populations that are more geographically and ancestrally remote tending to differ more, a phenomenon known as isolation-by-distance. (wikipedia.org)
  • For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. (wikipedia.org)
  • Population differences occur due to several causes, including random genetic drift, the influence of small migrant populations (the "founder effect"), and differences in selective pressures acting on human populations in different environments. (wikipedia.org)
  • Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. (wikipedia.org)
  • 2016
  • Retrieved 2016-05-21. (wikipedia.org)
  • In 2016, a study performed an association analysis on chromosome 22 at 31203 markers in order to determine if high blood pressure and smoking were correlated. (wikipedia.org)
  • mRNA
  • Thus, STAT3 and BLIMP-1 constitute an incoherent feed-forward loop downstream of IL-21 that can coordinate microRNA with mRNA expression during plasma cell differentiation. (jimmunol.org)
  • It encodes a 3182 base pair mRNA which possesses one Pleckstrin homology-like domain. (wikipedia.org)
  • disruption
  • An earlier RNAi screen in 2007 showed the disruption of Topoisomerase II activity impairs somatic pairing within Drosophila tissue culture, indicating a role for topoisomerase-mediated organisation (or the direct interactions of topoisomerase enzymes) in pairing. (wikipedia.org)
  • downstream
  • miR-21 is the most frequently deregulated microRNA in malignancy, including B cell lymphomas, and it has oncogenic potential downstream of STAT3. (jimmunol.org)
  • While 6,770 base pairs downstream from RUFY2 is a DNA2 conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. (wikipedia.org)
  • transcriptional
  • Identification of a dynamic core transcriptional network in t(8;21) AML that regulates differentiation block and self-renewal. (nih.gov)
  • differentiation
  • However, the regulation and function of miR-21 during plasma cell differentiation are not characterized. (jimmunol.org)
  • In contrast to the induction of miR-21 observed in response to STAT3 activation in other systems, we demonstrate that miR-21 is repressed during IL-21-driven plasma cell differentiation. (jimmunol.org)
  • Expression of primary miR-21 ( pri-miR-21 ) is repressed by BLIMP-1 during IL-21-driven in vitro human plasmablast differentiation, despite continued STAT3 activation and pri-miR-21 promoter occupancy by phospho-STAT3. (jimmunol.org)
  • Proteins
  • C21orf62 in humans has higher cysteine and lower valine concentrations than expected compared to other human proteins. (wikipedia.org)
  • In RNA, base-pair sequencing provides for manufacturing new proteins that determine the frames and parts and most chemical processes of all life forms. (wikipedia.org)
  • Compared to other proteins in humans, FAM227A has less abundant glycine and more abundant hydrophobic amino acids and positively charges amino acids. (wikipedia.org)
  • found
  • C21orf62 is found on human chromosome 21, and it is thought to be expressed in tissues of the brain and reproductive organs. (wikipedia.org)
  • As of 2017[update], the Single Nucleotide Polymorphism Database (dbSNP), which lists SNP and other variants, listed 324 million variants found in sequenced human genomes. (wikipedia.org)
  • This is why chromosome studies are often performed on parents when a child is found to have an anomaly. (wikipedia.org)
  • PRR21 consists of 389 amino acids or 1170 base pairs, all found within one exon. (wikipedia.org)
  • FAM227A is found on chromosome 22 at the location 22q13.1. (wikipedia.org)
  • targets
  • Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair. (wikipedia.org)
  • MLPA facilitates the amplification and detection of multiple targets with a single primer pair. (wikipedia.org)
  • Homo
  • The timeline of human evolution outlines the major events in the development of the human species, Homo sapiens, and the evolution of our ancestors. (wikipedia.org)
  • https://www.theguardian.com/science/2017/jun/07/oldest-homo-sapiens-bones-ever-found-shake-foundations-of-the-human-story "'Experiments with sex have been very hard to conduct,' Goddard said. (wikipedia.org)
  • organisms
  • TTC39B is conserved in organisms from human to platyhelminthes and is not conserved in yeast and fungi. (wikipedia.org)
  • Mechanisms for this include simple dilution (an egg contains on average 200,000 mtDNA molecules, whereas a healthy human sperm was reported to contain on average 5 molecules ), degradation of sperm mtDNA in the male genital tract, in the fertilized egg, and, at least in a few organisms, failure of sperm mtDNA to enter the egg. (wikipedia.org)
  • various
  • The various tarantula hawk wasps are of a similar size and can overpower a spider many times its own weight, and move it to its burrow, with a sting that is excruciatingly painful to humans. (wikipedia.org)
  • Clonal populations of bacteria, each population maintaining a single artificial chromosome, are stored in various laboratories around the world. (wikipedia.org)
  • populations
  • So-called physiological stress markers are extremely valuable in assessing life conditions of old human populations. (blogspot.com)
  • probe
  • If a and b are the signals from two amplicons in the patient sample, and A and B are the corresponding amplicons in the experimental control, then the dosage quotient DQ = (a/b) / (A/B). Although dosage quotients may be calculated for any pair of amplicons, it is usually the case that one of the pair is an internal reference probe. (wikipedia.org)
  • Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. (wikipedia.org)
  • Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp. (wikipedia.org)
  • A target-specific probe, composed of 20 oligonucleotide pairs, hybridizes to the target RNA(s). (wikipedia.org)
  • The probe is then applied to the chromosome DNA and incubated for approximately 12 hours while hybridizing. (wikipedia.org)
  • cell
  • In the experiment, four primary human airway smooth muscle cell lines were treated with 1 micromolar dexamethasone for 18 hours. (bioconductor.org)
  • In the mid-1990s, my research group began to devise a method to establish endothelial cell cultures from human peripheral blood, with an ultimate goal of examining interindividual heterogeneity of endothelial biology. (jci.org)
  • The role of telomeres and telomerase in cell aging and cancer was established by scientists at biotechnology company Geron with the cloning of the RNA and catalytic components of human telomerase and the development of a polymerase chain reaction (PCR) based assay for telomerase activity called the TRAP assay, which surveys telomerase activity in multiple types of cancer. (wikipedia.org)
  • species
  • In most species, including humans, mtDNA is inherited solely from the mother. (wikipedia.org)
  • It includes brief explanations of some of the species, genera, and the higher ranks of taxa that are seen today as possible ancestors of modern humans. (wikipedia.org)
  • It does not address the origin of life, which discussion is provided by abiogenesis, but presents one possible line of evolutionary descent of species that eventually led to humans. (wikipedia.org)
  • It is not threatened with extinction, but human activities, such as hunting, habitat destruction, and the introduction of foreign predatory species and parasites, have reduced its distribution in Australia. (wikipedia.org)
  • single
  • It is important to know if the sequencing experiment was single-end or paired-end, as the alignment software will require the user to specify both FASTQ files for a paired-end experiment. (bioconductor.org)
  • Within 100 generations in humans (about 2100 years in ancient times) one expects a few hundred of these 'blending' events to have occurred across a single chromosome, the average size is 1 centiMorgan (or 1 cM). (wikipedia.org)
  • major
  • HLA A1-B8-DR3-DQ2 haplotype (Also: AH8.1, COX, Super B8, ancestral MHC 8.1 or 8.1 ancestral haplotype) is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be confused with the HLA-DQ heterodimer DQ8.1). (wikipedia.org)
  • Haplogroup C is a major Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, P184, P255, and P260, which are all SNP mutations. (wikipedia.org)
  • final stage
  • The aim of this study is to estimate the influence of general environmental conditions on human organism at the final stage of the Neolithic period - in the Corded Ware culture. (blogspot.com)
  • regions
  • This is usually accomplished on human mitochondrial DNA by sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule of the mitochondrial DNA, as a genealogical DNA test. (wikipedia.org)
  • These 440 base pairs are then compared to the control regions of other individuals (either specific people or subjects in a database) to determine maternal lineage. (wikipedia.org)
  • cause
  • Spiral wave breakup is believed to be a cause of ventricular fibrillation in human hearts(see movie). (blogspot.com)
  • Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. (wikipedia.org)
  • currently
  • Close Orthologs: Distant Orthologs: The Domain of Unknown Function 3808 (DUF3808) domain is conserved from fungi to humans and is currently has an unknown function. (wikipedia.org)