• To date, mutations in 93 genes have been shown to cause the condition ( RetNet ). (molvis.org)
  • For humans, a maximum of 10 alleles could have made it through unless Noah's sons carried mutations. (creation.com)
  • Mutations in these genes affect proteins involved in the signaling pathway for pigment production and explain a large amount of the color variation in mammals. (creation.com)
  • The loss of proper response to DNA damage leads to genomic instability such as gene mutations, incomplete replication and the loss or gain of chromosomes to future generations. (biomedcentral.com)
  • Interestingly, the targeting of C/G bases and the frequency of transition mutations at C/G bases was higher in mice compared with humans, suggesting lower levels of DNA repair activity in mice. (aai.org)
  • 12] These errors, mutations, can affect an organism's phenotype, especially if they occur within the protein coding sequence of a gene. (mercinewyork.com)
  • Deletion mutations come in a huge range of sizes - a single base pair may be missing, or a large piece of a chromosome may be missing! (mercinewyork.com)
  • These were subsequently compared with known human variation databases to identify the presence of functionally relevant mutations (for example pathogenic variants). (biomedcentral.com)
  • A well-known example of such a monogenic dominant disorder, that underlies atherosclerosis, is Familial Hypercholesterolemia (FH), caused by loss of function (LOF) causing mutations in the genes encoding for the Low-density lipoprotein receptor (and Chaperone Containing TCP1 subunit 7 (mutation. (bibf1120.com)
  • amyloid peptide, a major constituent of the amyloid plaque, can result from mutations in the gene encoding amyloid precursor protein, a protein which when normally processed will not produce the .beta. (justia.com)
  • The authors pair single-cell sequencing technology with the LoopSeq synthetic long-read method to examine samples of hepatocellular carcinoma and benign liver, with the goal of identifying mutations and fusion transcripts specific to cancer cells. (elifesciences.org)
  • While protein expression is dictated by the level of gene expression, the structure and function of the protein is largely determined by the isoforms of the mRNA of a given gene and are impacted by mutations or other structural alterations to the amino acids ( Faustino and Cooper, 2003 ). (elifesciences.org)
  • This missense mutation (also known as "rs121912617") is located in exon 5 of the gene and it consists of a G>C substitution in the coding region of DEC2 which results in a proline to arginine substitution at amino acid position 385 of the gene. (wikipedia.org)
  • the mice that carried the mouse equivalent to the human DEC2-P385R mutation had, on average, about 1.2 hours more daytime activity than mice without the mutation. (wikipedia.org)
  • The affected twin was a 27-year old man who was found to have a non-synonymous mutation in amino acid position 362 in the fifth exon of the BHLHE41 gene which consisted of a substitution in the coding region of the gene from C>T which lead to an amino acid substitution of tyrosine to histidine. (wikipedia.org)
  • Sickle-cell disease one of the classical illustrations of heterozygote advantage, whereby those who carry one copy of the mutation on the gene have increased fitness vis-a-vis those who carry two normal copies of the gene. (discovermagazine.com)
  • The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy. (molvis.org)
  • DNA was extracted from the blood and subjected to mutation analysis by sequencing of the PIKFYVE gene. (molvis.org)
  • Sequence analysis revealed that the patient has a heterozygous c.4166_4169delAAGT mutation located at exon 24 of the PIKFYVE gene that may cause p.Glu1389AspfsX16 flame-shift mutation, which has never before been reported for FCD. (molvis.org)
  • In this study, we report a case of FCD bearing a heterozygous flame-shift mutation within the phosphoinositide kinase, FYVE finger containing ( PIKFYVE ) gene. (molvis.org)
  • 1 Some of these, such as the MC1R 2 and ASIP 3 genes, have been fairly well studied and useful information has been obtained by examining mutation patterns at these loci. (creation.com)
  • Results We identified a homozygous 2 bp deletion in MMP21, encoding matrix metalloproteinase-21, as the sole coding mutation that segregated with the phenotype. (bmj.com)
  • Positional cloning of lymphopenia ( lyp ) in the BB rat revealed a frameshift mutation in Gimap5 , a member of at least seven related GTPase Immune Associated Protein genes located on rat chromosome 4q24. (hindawi.com)
  • Our data substantiates the Gimap5 frameshift mutation as the primary defect with only limited contributions to lymphopenia from the remaining Gimap genes. (hindawi.com)
  • Positional cloning of the lyp gene revealed a frame shift mutation in Gimap5 (previously known as Ian5 or Ian4L1 ). (hindawi.com)
  • Gimap5 was identified as the lyp gene in the BBDP rat through a frameshift mutation and premature truncation of the Gimap5 protein [ 2 , 6 ] and can be rescued in a P1-derived artificial chromosome (PAC) transgenic rat [ 7 ]. (hindawi.com)
  • The invention provides transgenic non-human animals, such as transgenic rodents and transgenic non-human mammalian cells harboring a transgene encoding an APP polypeptide comprising the Swedish mutation. (justia.com)
  • the invention also provides non-human animals and cells comprising a transgene encoding an APP comprising the Swedish mutation and further comprising functionally disrupted endogenous APP gene loci, transgenes and targeting constructs used to produce such transgenic cells and animals, transgenes encoding human Swedish mutation APP polypeptide sequences, and methods for using the transgenic animals in pharmaceutical screening and as commercial research animals for modeling neurodegenerative diseases (e.g. (justia.com)
  • A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. (cancerindex.org)
  • And, the mutation rate based on phylogenic evolutionary relationships suggests that all of these tens of thousands of different species, including humans, came into existence between 100,000 and 200,000 years ago. (educatetruth.com)
  • Contrary to what some might think, the mitochondrial mutation rate used here was not determined by any sort of direct analysis, but by supposed phylogenic evolutionary relationships between humans and chimps. (educatetruth.com)
  • The evolution pathways that led to the hyper-mutation clusters in single human leukocyte antigen (HLA) molecules were identified. (elifesciences.org)
  • The combination of gene expressions, fusion gene transcripts, and mutation gene expressions significantly improved the classification of liver cancer cells versus benign hepatocytes. (elifesciences.org)
  • In 1986 Nobel laureate Renato Dulbecco laid down the gauntlet to the scientific community to sequence the complete human genome. (learner.org)
  • Dulbecco also argued that such a project should be "an international undertaking, because the sequence of the human DNA is the reality of the species, and everything that happens in the world depends upon those sequences. (learner.org)
  • The capstone, of course, was the completion of the human genome sequence. (learner.org)
  • In 2001 two rival teams jointly announced the completion of a draft sequence of the entire human genome, consisting of more than three billion nucleotides. (learner.org)
  • Ia, Ib, Id, Ie, If, Ig) identified by sequence analysis of the 60-kDa glycoprotein (gp60) gene, the Ib subtype is the major subtype responsible for waterborne and foodborne outbreaks of cryptosporidiosis in many countries. (cdc.gov)
  • in specimens were genetically characterized at the species level by PCR-restriction fragment length polymorphism analysis of the small subunit rRNA gene ( 14 ) and at the subtype level by DNA sequence analysis of the gp60 gene ( 15 ). (cdc.gov)
  • Based on these data it can be inferred that protein-coding sequence of MCPH genes might not be the sole determinant of increase in relative brain size during primate evolutionary history. (biomedcentral.com)
  • The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. (nih.gov)
  • In this context, we have recently reported a complete sequence analysis of a male from the Western part of The contemporary Indian population is an admixture of several waves of human migration from various directions, which is believed to have been segregated into various communities over the past 2000 y or so[ 2 ]. (ijpsonline.com)
  • Illumina Basespace Sequence hub, Dragon Germline 3.4.5 (DRAGEN Host Software Version 05.021.332.3.4.5 and Bio-IT Processor Version 0x04261818) was used for mapping the sequenced genomes with the human reference genome (GRCh38.p2) and the subsequent variant calling. (biomedcentral.com)
  • Our aim was to clone and sequence the cDNA of the BB diabetes prone (DP) and diabetes resistant (DR) alleles of all seven Gimap genes in the congenic DR. lyp rat line with 2 Mb of BB DP DNA introgressed onto the DR genetic background. (hindawi.com)
  • The fact that the Gimap genes are located together in a tight cluster on RNO4 (and in conserved synteny with many other species), combined with their sequence similarities, suggests the possibility that the proteins carry out similar function. (hindawi.com)
  • It has been suggested that TEs are a source of variation as a result of the insertion of fragments of their sequence into functioning genes elsewhere in the genome. (ecancer.org)
  • To study its performance in complex genomes, we used 454 technology to sequence four barley Bacterial Artificial Chromosome (BAC) clones and compared the results to those from ABI-Sanger sequencing. (biomedcentral.com)
  • Our data indicate that 454 pyrosequencing allows rapid and cost-effective sequencing of the gene-containing portions of large and complex genomes and that its combination with ABI-Sanger sequencing and targeted sequence analysis can result in large regions of high-quality finished genomic sequences. (biomedcentral.com)
  • The average sequence divergence was only 1.24% ± 0.07% for the human-chimpanzee pair, 1.62% ± 0.08% for the human-gorilla pair, and 1.63% ± 0.08% for the chimpanzee-gorilla pair. (ncl.edu.tw)
  • 1998 ). The MBL2 gene is composed of 7461 bases and lies between the regions 52765380 to 52772841 bp of chromosome no. 10 (NCBI reference sequence number NC_000010.11). (springeropen.com)
  • Only the non-synonymous SNPs (nsSNPs), also called as missense variants are particularly important as they result to changes in the translated amino acid residue sequence. (springeropen.com)
  • A protein consists of one or more chains of amino acids (called polypeptides) whose sequence is encoded in a gene. (genome.gov)
  • As I explained here , Miller's pseudogene example included four key misrepresentations: that the pseudogene has no function and is broken, that the pseudogene DNA sequence has "errors" or "mistakes," that there is no reason for broken genes aside from common descent, and that the evolutionary interpretation of such pseudogenes is objective science. (blogspot.com)
  • Several convergent lines of evidence show that mitochondrial diversity in modern humans follows from sequence uniformity followed by the accumulation of largely neutral diversity during a population expansion that began approximately 100,000 years ago. (educatetruth.com)
  • The resulting 10x Adapter sequence contains a 16-base pair barcode, followed by a 12-base pair unique molecular identifier (UMI) and a 30-base pair poly(dT) sequence. (elifesciences.org)
  • Epigenetics refers to heritable changes in gene expression without changing the nucleotide sequence of the gene, including DNA methylation, histone modifications, and RNA modifications. (beds.ac.uk)
  • The quest to understand the workings of human cells will not be over until we understand how this genetic blueprint is used to produce a particular set of proteins - the proteome - for each type of cell and how these proteins control the physiology of the cell. (learner.org)
  • We identified by linkage disequilibrium and recombination analyses only limited genetic recombination, which occurred exclusively within the 60-kDa glycoprotein gene subtype IbA10G2, a predominant subtype for outbreaks in industrialized nations and a virulent subtype in the study community. (cdc.gov)
  • Genetic drift and selective forces have shaped the individual structure of a given receptor gene but also of the species-specific receptor repertoire - a process that is still ongoing. (springer.com)
  • Although a large body of research, ranging from rodents to humans, has reported on the effects of OXT and AVP administration on affiliative and trust behaviors, and has highlighted the genetic contributions of OXT and AVP receptor polymorphisms to both social behaviors and to diseases related to social deficits, the consequences of peptide administration on psychiatric symptoms, and the impact of receptor polymorphisms on receptor function, are still unclear. (frontiersin.org)
  • Genetic basis of large brain size in modern humans has largely remained enigmatic. (biomedcentral.com)
  • Genes associated with the pathological reduction of brain size (primary microcephaly-MCPH) have the characteristics and functions to be considered ideal candidates to unravel the genetic basis of evolutionary enlargement of human brain size. (biomedcentral.com)
  • The genetic basis of divergence between the highly cognitive human brain and supposedly lesser cognitive non-human primate brain has largely remained enigmatic. (biomedcentral.com)
  • However, our understanding of the genetic causality for laterality defects in human beings remains relatively limited. (bmj.com)
  • A comparison of four virulent Y. pestis strains with the human-avirulent strain 91001 provides further insight into the genetic basis of virulence to humans. (asm.org)
  • Our genetic analyses of these two species yielded contrasting results: a spatial analysis of molecular variance (SAMOVA) and F ST between each pair of populations revealed a locally fragmented genetic structure for Y. multistriata , compared to three distinct geographic groups of Y. argus within which range-wide gene flow occurs. (bioone.org)
  • rats, where 2 Mb of DP DNA was introgressed onto the BB diabetes resistant (DR) genetic background, are lymphopenic and 100% develop spontaneous T1D by 84 days of age [ 4 ]. (hindawi.com)
  • Transposable elements (TEs) or mobile elements are genetic components that can have a significant effect on the host genome [ 1 , 2 ]. (ecancer.org)
  • Genetic factors explain a proportion of the observed inter-individual variability in atherosclerosis progression, which is exemplified by the observed 30C60% heritability in twin studies [1], and the finding that a positive family history for premature atherosclerosis is an independent risk factor [2]. (bibf1120.com)
  • The continuous increase in the human population coupled with rising incomes and urbanization necessitates the need to conserve the genetic potential of animals to avoid or lower the consequences of biodiversity loss. (scirp.org)
  • As was well known and documented when Miller and the ACLU lawyers devised Miller's testimony, pseudogenes that had been investigated often exhibited functional roles, such as gene expression, gene regulation and generation of genetic diversity. (blogspot.com)
  • Reproductive compatibility (which is not synonymous with reproductive isolation) clearly demonstrates a close genetic relationship (such as the same number of chromosomes). (educatetruth.com)
  • The major histocompatibility complex (MHC) on chromosome 6, which contains the human lymphocyte antigens (HLA), was the first described genetic link to SLE. (medscape.com)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • ADRB1 is a gene located in chromosome 10 which encodes for the beta-1 adrenergic receptor protein. (wikipedia.org)
  • The DB consists of a collection of frames , where each frame encodes information about a single object, such as an enzyme, a gene, or a biochemical pathway. (ecocyc.org)
  • This gene encodes one of four subunits of the splicing factor 3B. (nih.gov)
  • This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. (cancerindex.org)
  • The predicted structures of the Gimap proteins show common sequences and motifs, such as GTP-binding domains in the N-terminal half, but with differing C-terminal ends [ 2 , 3 ]. (hindawi.com)
  • One of the potential effects of TEs is the generation of new gene sequences [ 3 , 6 , 7 ] such as the envelope (env) genes of retroviral origin found in several mammals. (ecancer.org)
  • All gene containing regions were covered efficiently and at high quality with 454 sequencing whereas repetitive sequences were more problematic with 454 sequencing than with ABI-Sanger sequencing. (biomedcentral.com)
  • Pfcsp sequences were retrieved from the Illumina-generated paired-end short-read sequences of 101 and 131 malaria samples from children aged 6-59 months presenting with clinical malaria at health facilities in Cape Coast (in the coastal belt) and Navrongo (Guinea savannah region), respectively, in Ghana. (biomedcentral.com)
  • Pseudogenes sequences were found to be conserved with reduced nucleotide variability, excess synonymous over nonsynonymous nucleotide polymorphism, and other features that are expected in genes that have functional roles. (blogspot.com)
  • We hope that this effort will be helpful for understanding the studies performed so far, and for encouraging the inclusion of other candidate genes not explored to date. (frontiersin.org)
  • Outliers for F ST are candidate genes that may have experienced a history of natural selection in the Malawi lineage. (biomedcentral.com)
  • Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)
  • Human variation datasets were obtained from the UCSC and NCBI repositories [ 4 , 5 ]. (biomedcentral.com)
  • We show that the UEHGs, disease genes and other genes are different in their evolutionary conservation rates, DNA coding lengths, gene functions, etc. (biomedcentral.com)
  • The valuable source of large-scale genomic information initiated attempts to identify the origin(s) of G protein-coupled receptors (GPCR), count and categorize those genes, and follow their evolutionary history. (springer.com)
  • Phylogenetic analyses revealed several kinds of evolutionary patterns that occurred during GPCR evolution including one-to-one orthologous relationships, species-specific gene expansion, and episodic duplication of the entire GPCR repertoire in certain species lineages. (springer.com)
  • The chapter summarizes evolutionary processes working on GPCR genes and sheds light on their consequences at the levels of receptor structure and function. (springer.com)
  • The evolutionary expansion of human brain size is heterogeneous across brain regions. (biomedcentral.com)
  • This group of fishes is a significant model of the evolutionary process and the coding of genotype to phenotype, largely because tremendous diversity has evolved in a short period of time among lineages with similar genomes [ 2 - 4 ]. (biomedcentral.com)
  • The results showed evolutionary patterns of single molecule mutational gene expression from benign hepatocytes to liver cancer cells. (elifesciences.org)
  • Although some scientists expected to find at least 100,000 genes coding for proteins, only about 30,000-35,000 of such genes appear to be in the human genome. (learner.org)
  • These genes encode proteins that are required for the development and maintenance of photoreceptor structure and its matrix membranes, visual transduction, ciliary trafficking and photoreceptor outer segment shedding. (molvis.org)
  • The env gene maintained an ORF coding for a 538-amino acid polypeptide that has all the characteristic features of env proteins and mediates intercellular fusion in vitro [ 11 - 13 ]. (ecancer.org)
  • KERA, a proteoglycan proteins, was indicated in lipid-rich regions of human being atherosclerotic lesions, however, not in healthful arterial specimens. (bibf1120.com)
  • In yet another coup for a research concept known as "big data," researchers at the Stanford University School of Medicine have developed a computerized algorithm to understand the complex and rapid choreography of hundreds of proteins that interact in mindboggling combinations to govern how genes are flipped on and off within a cell. (pharmaceuticalintelligence.com)
  • To do so, they coupled findings from 238 DNA-protein-binding experiments performed by the ENCODE project - a massive, multiyear international effort to identify the functional elements of the human genome - with a laboratory-based technique to identify binding patterns among the proteins themselves. (pharmaceuticalintelligence.com)
  • Proteins control gene expression by either binding to specific regions of DNA, or by interacting with other DNA-bound proteins to modulate their function. (pharmaceuticalintelligence.com)
  • The ENCODE, for the Encyclopedia of DNA Elements , project was a five-year collaboration of more than 440 scientists in 32 labs around the world to reveal the complex interplay among regulatory regions, proteins and RNA molecules that governs when and how genes are expressed. (pharmaceuticalintelligence.com)
  • In this study, the researchers combined data from genomics (a field devoted to the study of genes) and proteomics (which focuses on proteins and their interactions). (pharmaceuticalintelligence.com)
  • They studied 128 proteins, called trans-acting factors , which are known to regulate gene expression by binding to regulatory regions within the genome. (pharmaceuticalintelligence.com)
  • Before our work, only the combination of two or three regulatory proteins were studied, which oversimplified how gene regulators collaborate to find their targets," Xie said. (pharmaceuticalintelligence.com)
  • Overall, the current database of human variants is still lacking in heavy representation from this region. (biomedcentral.com)
  • Finally, we looked at the genomic locations of the exonic variants to list all the genes that contained these changes. (biomedcentral.com)
  • Alternatively spliced transcript variants have been identified for this gene. (cancerindex.org)
  • CDC has used national genomic surveillance since December 2020 to monitor SARS-CoV-2 variants that have emerged throughout the COVID-19 pandemic, including the Omicron variant. (cdc.gov)
  • Fleck corneal dystrophy (FCD, Online Mendelian Inheritance in Man (OMIM) #121850) was first reported in 1957 by Francois and Neetens [ 9 ], and is one of the hereditary corneal dystrophies in which the causative genes have already been identified. (molvis.org)
  • Although some single genes have been implicated to play a causative role in SLE, current knowledge points toward a large number of genes being involved in a multifactorial-type inheritance pattern in most patients. (medscape.com)
  • Although the causative allele may not be identified, in fact the gene involved is likely to have been identified in the GWAS. (medscape.com)
  • 3 ] found that disease genes evolved with higher nonsynonymous/synonymous substitution rate ratios (Ka/Ks) than non-disease genes, but Huang et al. (biomedcentral.com)
  • One locus important in embryogenesis, KIT , has been associated with white coat patterns in several mammalian species and piebaldism in humans. (creation.com)
  • Little is known about the emergence and spread of virulent subtypes of Cryptosporidium hominis , the predominant species responsible for human cryptosporidiosis. (cdc.gov)
  • In particular, the enlarged and globular brain is the most distinctive anatomical feature of modern humans that set us apart from other extinct and extant primate species. (biomedcentral.com)
  • 2 Although named differently across vertebrate taxa, this structure has been observed in many species such as mouse (node), rabbit (Hensen's node) and zebrafish (Kupffer's vesicle, KV). (bmj.com)
  • Chimeric receptors between human and zebrafish OGR1s showed that the amino acid residues that determine the species specificity of ogerin-induced enhancement reside in the transmembrane and/or intracellular regions of OGR1. (bioone.org)
  • Recently, a molecular evolution study of the HERV-W provirus in several ape species and 24 humans demonstrated the conservation of syncytin-1, as well as its retention of receptor-mediated fusogenic activity [ 14 ]. (ecancer.org)
  • We produced assemblies for the five species ranging in aggregate length from 68 to 79 megabase pairs, identified putative orthologs for more than 12,000 human genes, and predicted more than 32,000 cross-species single nucleotide polymorphisms (SNPs). (biomedcentral.com)
  • the wild species has pods that are 5 to 10 cm (2 to 4 in) long and 1 cm diameter, but many modern cultivars developed for food use have pods 15 to 25 cm (6 to 10 in) long and 2-3 cm thick. (wikipedia.org)
  • In much of the English-speaking world , the name "broad bean" is used for the large-seeded cultivars grown for human food, while "horse bean" and "field bean" refer to cultivars with smaller, harder seeds that are more like the wild species and used for animal feed , [ citation needed ] though their stronger flavour is preferred in some human food recipes, such as falafel . (wikipedia.org)
  • An animal model is a non-human species used in biomedical research because it can mimic aspects of a biological process or disease found in humans. (genome.gov)
  • Their data showed that almost all animal species on Earth today emerged about the same time as humans. (educatetruth.com)
  • Unlike the genes in nuclear DNA, which can differ greatly from species to species, all animals have the same set of mitochondrial DNA, providing a common basis for comparison. (educatetruth.com)
  • A related, often sympatric species is Borrelia bissettii , but this species has not been associated with human disease. (cdc.gov)
  • Also, although there were only two humans, Eve may have carried alleles in her egg cells that differed from those in her body. (creation.com)
  • Nonetheless, carriage of specific alleles of HLA imparts about a 2-fold risk of SLE above that of the general population. (medscape.com)
  • For example, a recent study showed synergistic interaction between risk alleles found in the following pairs of genes: HLA-CTLA4, IRF5-ITGAM, and PDCD1-IL21. (medscape.com)
  • The positional cloning and subsequent identification of the Gimap5 gene on RNO4 were in part established through generation of the DR. lyp congenic rat line along with recombination events following our method of marker assisted breeding of DP with F344 rats [ 2 , 4 , 5 ]. (hindawi.com)
  • Pseudogenes were found to be involved in gene conversion or recombination with functional genes. (blogspot.com)
  • Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
  • Phylogenomic and comparative genomic analyses reveal the complex and reticulate evolution in the speciation of Echinochloa polyploids and provide evidence of constrained disease-related gene copy numbers in Echinochloa . (nature.com)
  • To study the genomic divergences among hominoids and to estimate the effective population size of the common ancestor of human and chimpanzee we selected 53 autosomal intergenic noncoding DNA segments from the human genome and sequenced them in a human, chimpanzee, gorilla, and orangutan. (ncl.edu.tw)
  • The mitochondrial haplogroup (L3e2b1a1) is indicative of maternal ancestors' arrival to the Indian subcontinent about 70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less than 25 000 y ago. (ijpsonline.com)
  • Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
  • and through the analysis of mitochondrial and Y-chromosome haplogroups decipher the migratory routes as well as the time for the ancestors of this individual to reach India. (ijpsonline.com)
  • Both GIMAP4 and GIMAP7 from human Jurkat cells [ 3 ] localize to the endoplasmic reticulum and Golgi apparatus while mouse Gimap3 from murine IL-3-dependent 32D myeloid precursor cells was expressed at the outer mitochondrial membrane [ 15 ]. (hindawi.com)
  • This complex organization of the gene reflects the complex nature of the protein receptor it produces. (creation.com)
  • In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
  • FIBCD1 is a tetrameric type II transmembrane endocytic vertebrate receptor that binds chitin, is found in human lung epithelium and modulates lung epithelial inflammatory responses to A. fumigatus cell wall polysaccharides. (bvsalud.org)
  • A genome-wide study in a northern European population replicated the association of SLE with susceptibility genes related to B-cell receptor pathway signaling, as well as confirmed the association of SLE with genes at the interferon regulatory factor 5 (IRF5)-TNPO3 locus. (medscape.com)
  • The higher risk of SLE in women and men with Klinefelter syndrome may be associated with enhanced expression of toll-like receptor 7 (TLR7), a key pathogenic factor in SLE that is encoded on an X chromosome locus. (medscape.com)
  • The cornea is one of the most transparent and non-vascularized tissues in the human body, and several active genes [ 1 , 2 ] are thought to be involved in maintaining the homeostasis of the cornea. (molvis.org)
  • Localisation of hRad9 protein were performed on paired tumor and normal breast tissues. (biomedcentral.com)
  • Given its particular distribution in normal human tissues and its potential roll as an immune modulator and in amino acid transport, tissue tolerance and protection against retroviral infection, syncytin could be a potential target for immune therapy using specific inhibitors. (ecancer.org)
  • The human genome is estimated to contain one single nucleotide polymorphism (SNP) every 300 base pairs. (nature.com)
  • One first constructs a map of the chromosomes, marking them at regular intervals of about 100 kilobases (kb). (learner.org)
  • Gimap5 is a member of at least seven related GTPase Immune Associated Protein ( Gimap ) genes located within 150 Kilobases (Kb) on rat chromosome (RNO) 4 [ 2 , 3 ]. (hindawi.com)
  • Using the HapMap genotype data and genome wide expression data, we assessed the distribution and functional implications of singleton SNPs in the human genome. (nature.com)
  • In this study, we investigate the distribution and functional implications of singleton SNPs in the human genome using the phase II HapMap data. (nature.com)
  • The genes were then used to carry out an ontology search in order to identify the biological pathways and functions that are most likely to be effected as a result of these SNPs. (biomedcentral.com)
  • In spite of being exhaustively studied molecule, no attempt has been made till date to comprehensively and systematically analyze the SNPs of MBL2 gene. (springeropen.com)
  • The present study was carried out to identify and prioritize the SNPs of MBL2 gene for further genotyping and functional studies. (springeropen.com)
  • These 37 SNPs includes one in 3′ near gene, nine in 3′ UTR, one non-synonymous SNP (nsSNP), thirteen intronic SNPs and thirteen in 5′ near gene. (springeropen.com)
  • Out of these, 4 SNPs from 3′ UTR were found to play role in miRNA binding, 7 SNPs from 5′ near and intronic region were predicted to involve in transcription factor binding and expression of MBL2 gene. (springeropen.com)
  • Thus, findings of the present study indicated 12 SNPs of MBL2 gene to be functionally important. (springeropen.com)
  • 2007 ). SNPs of MBL2 gene cover both coding and non-coding regions. (springeropen.com)
  • The identification of KERA in atherosclerotic plaque specimen in humans and mice lends support to its potential role in atherosclerosis. (bibf1120.com)
  • Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, physiology or response to a pathogen that researchers can extrapolate the results of animal model studies to better understand human physiology and disease. (genome.gov)
  • By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Long non-coding RNA CASP5 promotes the malignant phenotypes of human glioblastoma multiforme. (cancerindex.org)
  • One special type of plasmid used for genome sequencing is a bacterial artificial chromosome (BAC) , which can contain DNA fragments of about 150 kb. (learner.org)
  • Several studies have compared various features of heritable disease genes with other so called non-disease genes, but they have yielded some conflicting results. (biomedcentral.com)
  • Over the long term one assumes that 'better solutions' will emerge which do not have so high a fitness drag, perhaps through the evolution of modifier genes which mask the deleterious outcomes of the initial mutant. (discovermagazine.com)
  • One nsSNP Gly54Asp (rs1800450) was found to be deleterious and damaging by both SIFT and Polyphen-2 servers and thus affecting MBL2 protein stability and expression. (springeropen.com)
  • Essential genes are genes whose functions are necessary for the organism to survive and reproduce. (biomedcentral.com)
  • We should think of the human genome as a database of critical information that serves as a tool for exploring the workings of the cell and, ultimately, understanding how a complex living organism functions. (learner.org)
  • The removal of an amino group from an organism, particularly from an amino acid ○ C will then pair with A and A will then pair with C, e.g. (goconqr.com)
  • To understand the role of each cell in an organism, broad spectrum mRNA isoform and mutational gene expression analyses at the single-cell level is necessary. (elifesciences.org)
  • Each time an amino acid is added to a growing polypeptide during protein synthesis, a tRNA anticodon pairs with its complementary codon on the mRNA molecule, ensuring that the appropriate amino acid is inserted into the polypeptide. (genome.gov)
  • Therefore, investigation of MCPH genes can reveal molecular mechanisms that are critical in the regulation of brain size and complexity [ 28 , 29 ]. (biomedcentral.com)
  • Miller focused on two examples from molecular biology: a pseudogene and a fused chromosome. (blogspot.com)
  • So far, well over three hundred genes have been identified as affecting coat color in mammals. (creation.com)
  • Estimation of divergent selection pressure revealed that almost all of the MCPH genes analyzed in the present study have maintained their functions throughout the history of placental mammals. (biomedcentral.com)
  • One of the few antigens against which mammals develop protective immunity is the highly polymorphic OspC protein, encoded by the ospC gene on the cp26 plasmid. (cdc.gov)
  • The reference Human Genome and related variant databases need to be enriched with data from underrepresented populations. (ijpsonline.com)
  • We found that the distributions and frequencies of types of OspC genes differed between populations of B. burgdorferi in the Northeast, the Midwest, and California. (cdc.gov)
  • Gene reduction analysis revealed that the gene deletion processes are under selective pressure, and many of the inactivations are probably related to the organism's interaction with its host environment. (asm.org)
  • However, an analysis of the synonymous and non-synonymous substitutions indicated a relatively high degree of amino acid change in hominoids [ 15 ], which could be consistent with a low degree of selective pressure. (ecancer.org)
  • Mannose binding lectin gene 2 ( MBL2 ) polymorphisms are reported to be associated with various diseases. (springeropen.com)
  • It has been speculated that complexity of modern human brain arose through changes in protein-coding genes and non-coding regulatory elements [ 8 ]. (biomedcentral.com)
  • Dominant" means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. (genome.gov)
  • By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)
  • With the accurate identification of m7G modifications within RNAs, their functional roles in the regulation of gene expression and different physiological functions have been revealed. (beds.ac.uk)
  • The detection of RNA modifications is fundamental to the study of m7G modifications in the regulation of gene expression. (beds.ac.uk)
  • Contrary to our expectations, human-specific adoptive evolution was not detected for any of the MCPH genes analyzed in the present study. (biomedcentral.com)
  • Most of the expansion in brain size occurred in the last 2-3 million years of human evolution [ 6 , 7 ]. (biomedcentral.com)
  • Our findings systematically confirm that disease genes have an intermediate essentiality which is less than housekeeping genes but greater than other human genes. (biomedcentral.com)
  • Therefore, comparing disease genes to a mixture of essential and non-disease genes will reduce the clarity of the signals of the disease-related features and may even lead to erroneous findings. (biomedcentral.com)
  • 300 ng gDNA from each of the four samples was used to prepare paired-end libraries with the Nextera™ DNA Flex Library Preparation kit with an average insert size of 600 bp. (biomedcentral.com)
  • For example, Zhang and Li found that housekeeping genes evolved more slowly than tissue-specific genes [ 10 ]. (biomedcentral.com)
  • Eisenberg and Levanon found that housekeeping genes were compact in their coding lengths, which could be the result of higher selective pressure[ 11 ]. (biomedcentral.com)
  • Subtype IbA10G2 has been found in ≈50% of C. hominis- associated outbreaks in the United States, including the massive outbreak in Milwaukee, Wisconsin, USA, in 1993 ( 2 , 3 ). (cdc.gov)
  • This complex gene codes for a complex protein important in a number of pathways. (creation.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. (cancerindex.org)
  • Altered expression of this gene has been observed in multiple human cancers. (cancerindex.org)
  • Subsequently, significant work has been done on Indian genomes but not much variant data from the Indian population has been added to the human genome variant database[ 2 - 7 ]. (ijpsonline.com)
  • METHODS: Consenting incarcerated persons with confirmed SARS-CoV-2 infection provided mid-turbinate nasal specimens daily for 10 consecutive days and reported symptom data via questionnaire. (cdc.gov)
  • Ogerin is a positive allosteric modulator of human and mouse ovarian cancer G protein-coupled receptors (OGR1s). (bioone.org)
  • Insertions of TEs influence the transcriptional regulation of some genes as well as the termination of transcription. (ecancer.org)
  • It is a matter of concern that the Human reference genome originally developed in 2003[ 1 ] is derived from about 200 anonymous individuals from six countries: China, France, Germany, Great Britain, Japan and the United States, but did not have Deoxyribonucleic Acid (DNA) from any Indian. (ijpsonline.com)
  • The original Human Reference Genome had no representation from the subcontinent. (biomedcentral.com)
  • Over time, OspC genes were transferred between strains through recombinations involving the whole or parts of the gene and one or both flanks. (cdc.gov)
  • MBL1 and MBL2 , but in human the first of them is pseudogene leaving one functional gene MBL2 (Guo et al. (springeropen.com)
  • In short, this sixth gene [the same pseudogene Miller testified of in the Dover court] is a mess , a nonfunctional stretch of useless DNA. (blogspot.com)
  • By means of DNA sequencing of a large sample collection of the pathogen from across the United States, we studied the gene for the bacterium's highly diverse OspC protein, protective immunity against which develops in animals. (cdc.gov)