• After nearly 40 years of searching, researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos are formed, effectively allowing for the generally lethal activation of more than one X chromosome during development. (sciencedaily.com)
  • However, she says, the gene responsible for this repressor, or even its approximate location in the human genome, has been unclear. (sciencedaily.com)
  • and the University of California, Santa Cruz, Genome Browser, to look for genes or genomic regions of chromosomes 1 and 19 thought to produce proteins that interact with Xist. (sciencedaily.com)
  • They narrowed their search to a few candidate regions, then turned to a third database, Decipher, which makes it possible to compare human genome variants on tens of thousands of patients with genetic disorders worldwide. (sciencedaily.com)
  • Only one section of the human genome fit the bill with these criteria -- a stretch of DNA on the short arm of chromosome 19. (sciencedaily.com)
  • In this study, we performed genome analyses of more than 1,000 bifidobacterial strains publicly available revealing that Bifidobacterium adolescentis taxon might represent a model GABA producer in human gastrointestinal tract. (nature.com)
  • Because researchers use different approaches to genome annotation , their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • The genome of circoviruses are composed of single-stranded DNA, while those of parvoviruses are linear single-stranded DNAs with base-paired ends (figure). (virology.ws)
  • For viruses with an RNA genome, the nucleic acid must enter the nucleus (perhaps accidentally for viruses without a nuclear phase) and be converted to a DNA copy by reverse transcriptase encoded by endogenous retroviruses. (virology.ws)
  • Almost half of the human genome is made up of mobile genetic elements, which includes endogenous proviruses and other sequences derived from retroviruses such as retrotransposons, retroposons, and processed pseudogenes. (virology.ws)
  • Only 1.5% of nucleic acids in human genome are used for protein encoding, but other 98.5% of the genome does not encode proteins. (jcancer.org)
  • Setting aside sporadic mutations, every somatic cell in the body contains an identical genome with an identical complement of genes, each of which encodes a specific protein. (ernolaszlo.com)
  • Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. (sergas.gal)
  • Until recent years, the mitochondrial genome, located in the mitochondrion, and the genetic information encoded by it have been given little attention. (bartleby.com)
  • However, recently it became apparent that the mitochondrial genome, despite its small size, is crucial for the study of human evolution and disease, as mtDNA mutations lead to some serious diseases. (bartleby.com)
  • Reinventing potato from a clonally propagated tetraploid to a true seed-propagated diploid has the potential to considerably accelerate genetic improvement, and would enable the genome design of a crop that has been highly recalcitrant to the use of molecular breeding and genomics approaches 3 , 6 , 7 . (nature.com)
  • The open session of the National Advisory Council for Human Genome Research was convened for its thirty-eighth meeting at 8:40 a.m. on September 13, 2004 at the Natcher Conference Center, National Institutes of Health, Bethesda, MD. Francis Collins, Director of the National Human Genome Research Institute, called the meeting to order. (genome.gov)
  • However, large-scale nucleotide sequencing directed at the human genome (3 billion nucleotides! (nationalacademies.org)
  • It is this side of molecular biology that is data intensive and is embodied in the Human Genome Project, a burgeoning scientific endeavor producing vast amounts of new information that researchers must select from to advance their investigations. (nationalacademies.org)
  • The primer pair sets specific for each plasmid were derived from the genome sequence for B. miyamotoi strain CT13-2396, because the LB-2001 complete sequence had not been generated. (cdc.gov)
  • consists of an approximate 1 megabase chromosome and multiple linear and circular plasmids. (cdc.gov)
  • Therefore, we re-evaluated the original CT13-2396-derived multiplex PCR primer pairs and determined their location in the LB-2001 plasmids. (cdc.gov)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. (hindawi.com)
  • Double minute chromosomes (dmins) are cytogenetic indicators of extrachromosomal gene amplification which usually act as small spherical paired chromatin particles [ 1 ]. (hindawi.com)
  • Relaxed Chromatin Formation and Weak Suppression of Homologous Pairing by the Testis-Specific Linker Histone H1T. (nih.gov)
  • These results suggested that the testis-specific linker histone, H1T, possesses a specific function to produce the chromatin architecture required for proper chromosome regulation, such as homologous recombination. (nih.gov)
  • To date, it is well known that lncRNAs participate in chromatin modifications and transcriptional and translational regulation of protein-encoding genes or regulate protein function and activity through specific binding [ 3 - 5 ]. (jcancer.org)
  • The tub gene is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. (nih.gov)
  • Human Tumor Necrosis Factor(TNF) and Lymphotoxin(TNF-beta) are cytotoxic proteins which have similar biological activities and share 30% amino acid homology. (influenza-x.org)
  • The chromosome encodes a complete type VI secretion system and plasmid genes encode type IV secretion proteins. (nottingham.ac.uk)
  • The putative TSO1 protein has two cysteine-rich regions that aresimilar to the CXC domains of a variety of proteins from plants and animals,including a class of kinesins involved in chromosome segregation, and enhancer ofzeste-type proteins. (embl.de)
  • The impaired function of specific organelles indicates that the causative genes encode proteins operative in the formation of lysosomes and vesicles. (medscape.com)
  • Borrelia miyamotoi is a tick-transmitted spirochete that is genetically grouped with relapsing fever Borrelia and possesses multiple archived pseudogenes that encode variable major proteins (Vmps). (cdc.gov)
  • The mouse Pitx2 gene encodes three distinct protein isoforms (Pitx2a, b, c), and Pitx2c plays a determinant role in left-right atrium signaling from early somitogenesis onward 5 . (nature.com)
  • 5] Syrzycka et al[6] demonstrated that the pink gene encodes the Drosophila ortholog of the human HPS5 gene. (medscape.com)
  • Human leukocyte antigen B27 ( HLA-B27 ) is the major genetic susceptibility marker in AS. (molvis.org)
  • Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. (scirp.org)
  • Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
  • the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. (sergas.gal)
  • HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex ( AP3BA ), which assists in the vesicle formation from the trans-Golgi network or late endosome. (medscape.com)
  • HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex (ADTB3A), which resides on chromosome 5. (medscape.com)
  • Strains of this species have been isolated from human brain abscesses. (wikipedia.org)
  • In regions where B. burgdorferi is enzootic, sites as small as a few hectares have between 9 and 15 strains ( 4 - 6 ). (cdc.gov)
  • Mol Immunol 2009(10): 2140-6 [ PubMed abstract ]. (lu.se)
  • J Clin Immunol 2009(3): 352-6 [ PubMed abstract ]. (lu.se)
  • Pediatr Blood Cancer 2008(6): 826-8 [ PubMed abstract ]. (lu.se)
  • With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. (neobiotechnologies.com)
  • This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
  • Hepadnaviruses encode a reverse transcriptase which produces the genomic DNA from an RNA template. (virology.ws)
  • GENOMIC AND MITOCHONDRIAL DNA IN FORENSIC DENTISTRY The genomic DNA is found in the nucleus of each cell in the human body and represents a DNA source for most forensic applications. (bartleby.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 impaired function of specific organelles indicates that the causative genes encode protein complexes that regulate vesicle trafficking in the endolysosomal system including AP-3, BLOC-1, BLOC-2, and BLOC-3. (medscape.com)
  • Among the OAT isoforms, rOAT3, as well as rOAT1, exhibits a markedly wide substrate selectivity, and its human homolog is considered a key molecule in the renal handling of organic anions. (aspetjournals.org)
  • HPS4 involves the human homolog of the mouse light-ear gene. (medscape.com)
  • overexpressed in DS due to the extra chromosome. (bvsalud.org)
  • Studies done elsewhere identified the mechanism behind the silencing of X chromosomes: a gene called Xist, short for X-inactive specific transcript. (sciencedaily.com)
  • To accomplish this, the transcriptional unit is preceded by regulatory elements, such as promoters and enhancers, that modulate production of its protein encoding transcript ( Figure 1.2 ). (ernolaszlo.com)
  • Two transcript variants encoding different isoforms have been found for this gene. (prosci-inc.com)
  • Mitochondrial DNA is the small circular chromosome that is found inside mitochondria. (bartleby.com)
  • There are 16,569 base pairs of mitochondrial DNA which only code for 37 genes. (bartleby.com)
  • The DNA from the mitochondria is called the mitochondrial DNA (mtDNA), this DNA has over 16,000 base pairs (bps) that can be used to view the the lineage of a person's history. (bartleby.com)
  • Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome. (neobiotechnologies.com)
  • Several published literatures revealed that some oncogenes, such as MYC and MLL, have been identified to be amplified on dmins in AML and myelodysplastic syndrome (MDS) [ 6 ]. (hindawi.com)
  • The similarities between these platelet disorders and our recent refinement of the MHA (ref. 6) and FTNS (ref. 7) disease loci to an overlapping region of 480 kb on chromosome 22 suggested that all three disorders are allelic. (nih.gov)
  • In this variant, a 16-base pair frame shift duplication occurs at exon 15 of the HPS1 gene. (medscape.com)
  • the human body has apx 100 trillion cells each of which contain 46 chromosomes. (scienceagogo.com)
  • Human TNF has been purified to apparent homogeneity as a 17.3-kilodalton protein from HL-60 leukemia cells and has showed cytotoxic and cytostatic activities against various human tumor cell lines. (influenza-x.org)
  • Interleukin-21 (IL-21) was first identified in 2000 through screening of a cDNA library from CD3+ human T cells [ 1 ]. (intechopen.com)
  • FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
  • Chromosome 9 spans about 150 million base pairs of nucleic acids (the building blocks of DNA ) and represents between 4.0 and 4.5% of the total DNA in cells . (wikipedia.org)
  • Nevertheless, until very recently, BS-seq could only be used to measure methylation in bulk populations of cells [ 5 ], preventing effective investigations of the role of DNA methylation in shaping transcriptional variability and early development [ 6 , 7 ]. (biomedcentral.com)
  • For instance, H19 is the first lncRNA transcribed by RNA polymerase II and is expressed mainly in human embryonic cells. (jcancer.org)
  • A key issue is how cells pair sister chromatids but preclude the catastrophic pairing of nonsister chromatids. (rupress.org)
  • Thus, the products of chromosome replication (sister chromatids) generated during S-phase must be identified over time until mitosis when sisters associate with the mitotic spindle and segregate away from each other into the newly forming daughter cells. (rupress.org)
  • [ 6 ] Cells deficient in the HPS5 protein maintain early-stage melanosome formation and Pmel-17 trafficking. (medscape.com)
  • Bornaviral sequences were found in the genomes of humans, non-human primates, rodents, and elephants. (virology.ws)
  • The ROCK isoforms are encoded by two different identified genes and are ubiquitously expressed. (cloudfront.net)
  • DNA methylation is probably the best studied epigenomic mark, due to its well-established heritability and widespread association with diseases and a broad range of biological processes, including X-chromosome inactivation, cell differentiation, and cancer progression [ 1 - 3 ]. (biomedcentral.com)
  • In tumor tissues, lncRNAs are markedly deregulated and pervasively involved in development and progression of cancers [ 6 - 8 ]. (jcancer.org)
  • For instance, DNA replication and DNA damage checkpoints delay cell cycle progression until each chromosome is fully replicated and physically intact. (rupress.org)
  • Congenital hypophosphatasia is absence or low levels of serum alkaline phosphatase due to mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). (msdmanuals.com)
  • The cytogenetic abnormalities were described according to the International System for Human Cytogenetic Nomenclature (ISCN). (hindawi.com)
  • 1997. Metabolic activation of aromatic amines by human pancreas. (cdc.gov)
  • The PITX gene encode the paired-like homeodomain transcription factor family. (nature.com)
  • HBS1L encodes a protein with apparent GTP binding activity and is included in different cellular processes while MYB encodes a transcription factor for erythroid differentiation in hematopoiesis [10]. (scirp.org)
  • No replication was observed for phage CP30 during the 6 hours studied. (nottingham.ac.uk)
  • This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. (nih.gov)
  • It is well known that the products of chromosome replication are paired to ensure that the sisters segregate away from each other during mitosis. (rupress.org)
  • The identification of both replication factor C and DNA helicases as critical for sister chromatid pairing has brought new insights into this fundamental process. (rupress.org)
  • Interestingly, the 1p36 region is frequently deleted not only in NB, but also in other human cancer types, including those of neural, epithelial and hematopoietic origin, indicating that the same tumor suppressor genes might be involved in a broad range of human cancers [ 11 ]. (biomedcentral.com)
  • Long non-coding RNAs (lncRNAs) are non-coding RNAs longer than 200 nucleotides that function as regulatory factors in many human diseases, including cancer. (jcancer.org)
  • Some lncRNAs affect the growth and development of breast cancer by regulating cell proliferation and apoptosis, and others are involved in invasion and metastasis and drug resistance of breast cancer [ 6 ]. (jcancer.org)
  • 1979. Chemicals and industrial processes associated with cancer in humans. (cdc.gov)
  • Worldwide, the most common mutation that causes this condition deletes a single DNA building block (base pair) from the CNGB3 gene. (medlineplus.gov)
  • Located on the X chromosome itself, Xist produces a protein that spreads up and down the chromosome during female embryonic development, turning off its genes. (sciencedaily.com)
  • TMEM17 (transmembrane protein 173) is a 379 amino acid protein encoded by a gene mapping to human chromosome 5. (neobiotechnologies.com)
  • The hOAT3 cDNA consisted of 2179 base pairs that encoded a 543-amino-acid residue protein with 12 putative transmembrane domains. (aspetjournals.org)
  • Because having two active X chromosomes is lethal very early in development -- before a new embryo even implants into the uterine wall -- Migeon and her colleagues focused on autosomal trisomies. (sciencedaily.com)
  • [6] The location of the base pair starts at 18,529,703 and ends at 18,691,812 bp and translates into 1354 amino acids . (cloudfront.net)
  • The CYP1A1 3801T/C (also named MspI polymorphism, *2A or m1), results from a replacement of thymine by a cytosine at the 3801st base pair in the 3' flanking region of the gene [ 9 , 10 ]. (springeropen.com)
  • Black arrows indicate the 3 pairs of specific primers (refers to 1, 2, 3…6) used for the 89K assay. (cdc.gov)
  • A tissue culture based reporter assay for activation of human CD30 receptor was developed. (nottingham.ac.uk)
  • The pair of specific primers 1 plus 6 is applied to determine whether the 89K PAI is present in the bacterial isolates. (cdc.gov)
  • The numbers 1 and 6 represent a pair of specific primers designed for the detection of 89K PAI. (cdc.gov)
  • 1998 Feb;18(2):174-6. (nih.gov)
  • Indi- viduals with DS were venerated in Olmec culture since they were thought to be descendants of humans and jaguar (PUESCHEL, 1998). (bvsalud.org)
  • Moreover, the in silico screening of human/animal metagenomic datasets showed an intriguing association/correlation between B. adolescentis load and mental disorders such as depression and anxiety. (nature.com)
  • Sickle cell disease ( SCD ) is considered as one of the commonest gene disorders of human beings. (scirp.org)
  • However, says Barbara R. Migeon, M.D., professor of pediatrics at the Johns Hopkins University School of Medicine and a pioneer in X-inactivation research, she and her colleagues reported nearly four decades ago that in some human embryos with triploidy -- a condition in which there are three sets of chromosomes instead of the usual two -- two copies of the X chromosome remained active. (sciencedaily.com)
  • The number of encoded NBPF/DUF1220 repeats varies from 4 to 52 copies, depending on the gene member and the NBPF1 protein has 7 repeats [ 6 ]. (biomedcentral.com)
  • Humans normally have two copies of this chromosome, as they normally do with all chromosomes. (wikipedia.org)
  • When a signal is sent to express a specific gene, the DNA sequence encoding that gene is used as a template to produce single-stranded RNA in a process called transcription. (ernolaszlo.com)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • Description: A competitive ELISA for quantitative measurement of Human True insulin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (influenza-x.org)
  • Another study that compared a pair of twins with discordant HIV infection status showed that several other genes are also differentially methylated, including insulin-like growth factor binding protein 6 ( IGFBP6 ) [ 19 ]. (biomedcentral.com)
  • This gene is found in the large histone gene cluster on chromosome 6. (nih.gov)
  • A cDNA encoding a multispecific organic anion transporter 3 (hOAT3) was isolated from a human kidney cDNA library. (aspetjournals.org)
  • It is also reported that human PITX2 insufficiency results in cellular and molecular changes leading to atrial electrical and structural remodeling linked to arrhythmogenesis 6 . (nature.com)
  • At least two classes of factors are critical for sister chromatid pairing: structural cohesins and deposition factors. (rupress.org)
  • Fingerprinting uses these varying papillary structures on the tips of human fingers. (fidis.net)