Promoter chromosomes human pair 4. Medical search. Frequent questions

AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)
P. aeruginosa have larger genomes compared to other bacterium (5.5 and 7 million base pairs), due to what is called the accessory genome, large numbers of regulatory genes (including two-component regulatory systems, transporters, and transcriptional regulators), genome plasticity, and the ability to communicate with other pseudomonads and bacterium via horizontal gene transfer (these last components are also due to the variety seen in the accessory genome). (kenyon.edu)
The yeast ML01 was modified using a shuttle vector containing a chromosome integration cassette with genes for malolactic enzyme, malate transporter (permease), regulatory genes and a sequence directing homologous recombination at a chromosomal locus (not specified in the FDA report), and the antibiotic phleomycin gene was used as a selectable marker via another plasmid. (i-sis.org.uk)
The shuttle vector may also replicate autonomously in the yeast nucleus and express genes equipped with promoter and terminator genes. (i-sis.org.uk)
Promoters of genes associated with oxidative phosphorylation are preferentially remethylated at the 8-cell stage, suggesting that this mode of energy metabolism may not be favored. (nature.com)
In particular, HEG gene drive could be particularly effective if activity was restricted to the male germline to target genes required for female fertility/viability or engineered to destroy the X-chromosome by cutting at multiple X-specific sites [5] , [6] . (plos.org)
The existence of G-quadruplex DNA is also heavily implied in the promoter region of genes and oncogenes, and is thus assumed to play an important regulatory role in their transcription [ 26 ]. (hindawi.com)
Gene set enrichment analysis using patient DNA methylation changes in gene promoters revealed enrichment of genes controlling embryonic development and genes linked to symptoms which are among the most common symptoms of Cri du chat syndrome: developmental delay and microcephaly. (biomedcentral.com)
Importantly, this relative enrichment is not driven by changes in the methylation of genes on chromosome 5. (biomedcentral.com)
We do not know which gene(s) on the p-arm of chromosome 5 that causes epigenetic changes when hemizygous, but an important contribution from this work is making the pool of possible causative genes smaller. (biomedcentral.com)
3. The completion of the Human Genome Project allowed us to sequence all of the human genome and to know the function of all of the genes. (tutorpro.us)
[ 4 ] The 6 genes involved in WS are PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. (medscape.com)
In the post-genomic era, the cancer research is focused on the dysregulation of transcriptional dysregulation mediated by epigenetic modifications in the enhancer, SE, and gene promoter regions of key tumor suppressor and tumor-promoting genes [ 5 , 6 ]. (ijbs.com)
Additionally, it was revealed that the most relevant genes are involved in biological processes related to signal transduction, positive regulation of transcription from RNA polymerase II promoters, chemical synaptic transmission, response to drugs, ion transmembrane transport, nervous system development, cell adhesion, and neuron migration. (biomedcentral.com)

In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. (wikipedia.org)
TB) in humans for thousands of years (1,2), and the unlinked loci distributed around the chromosome. (cdc.gov)
Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)

Unlike in rodents, X chromosome inactivation is not observed during monkey pre-implantation development. (nature.com)
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)

Using human proteins, an affinity chromatography ran on TMEM33 showed that the protein bound to reticulon 4C, 1A, 2B, 3C, and Arl6IP1 in vitro. (wikipedia.org)
11. Transcription factors are DNA-binding proteins that assist RNA polymerase bind to the promoter region of DNA. (tutorpro.us)

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)
Single nucleotide polymorphisms (SNPs) in the Gγ-globin gene promoter in BCL11A regions and HBS1L-MYB intergenic polymorphism (HMIP) are thought to be associated with Hb F levels. (scirp.org)
A common MUC5B promoter polymorphism and pulmonary fibrosis. (ucdenver.edu)
We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)

When a HEG is integrated into its recognition sequence in the genome, its protein product acts to cleave its cognate site on the homologous chromosome and gene conversion or homologous recombination can result in a new copy of the HEG being inserted. (plos.org)
Lately, mouse promoter continues to be cloned which is homologous towards the human being promoter extremely, and included the same binding sites (18). (cahrr.org)
These chromosomes are organized into pairs, with each pair consisting of two homologous chromosomes. (proprofs.com)

We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. (nih.gov)
The maintenance of a single centromere per chromosome is critical for establishing bipolar microtubule attachments to the mitotic spindle and achieving high-fidelity genome segregation 17 . (nature.com)
Genome Reference Consortium Human Build 38 (GRCh38) and Telomere-to-Telomere Consortium CHM13 (T2T-CHM13 (v2.0)) were used as the human reference genomes. (bvsalud.org)
In contrast, human genome 19 (hg19) was used in the original study. (bvsalud.org)
In the p-arm of chromosome 5 where patients are hemizygous, we find stronger changes in methylation of CpG sites than what is seen in the rest of the genome, but this effect is less pronounced in gene regulatory sequences. (biomedcentral.com)
Bisulfite treatment of DNA followed by sequencing (BS-seq) has provided a powerful tool for measuring the methylation level of cytosines on a genome-wide scale with single nucleotide resolution [ 4 ]. (biomedcentral.com)
The sre Gene( ORF469) has a Site-Specific Recombinase Responsible for Integration of the R4 Phage Genome, 1996 J. Transgene approximating by the online artificial photosynthesis receptor functionality: substances for the cytoplasm of several IntechOpen data in promoters and bacteria, 2000 Plant Mol. (scoutconnection.com)
Comparison with the human genome reveals a single copy of CAT in the human genome. (tanakalab.org)
The complete cause drug resistance are distributed throughout the tree, genome sequences (15-18) provide access to all regions of whereas nonsynonymous base substitutions unrelated to the chromosome and facilitate such studies. (cdc.gov)

Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. (ox.ac.uk)
U.K. clinical isolates, silent single nucleotide polymor- variation in insertion sequences (4) and repetitive genom- phisms (sSNPs) resolve an unambiguous phylogeny and ic elements (5,6), have elucidated clusters of identical and provide a unifying framework for epidemiologic, popula- closely related strain families (7-9). (cdc.gov)

Transcription is initiated by the binding of RNAP (RNA polymerase) to the promoter. (kenyon.edu)
For mRNA synthesis to occur, DNA polymerase must bind to a promoter region on the DNA. (tutorpro.us)

Nondisjunction in meiosis can lead to an abnormal number of chromosomes in the resulting cells, which is the cause of Down syndrome, Turner's syndrome, and Klinefelter's syndrome. (proprofs.com)

The first column shows maternal age, the second column shows the most common human chromosomal abnormality, trisomy 21 (Down syndrome), the third column shows all chromosomal abnormalities. (edu.au)
19. An exchange of chromosomal segments between two nonhomologous chromosomes is a/an (Points : 4) deletion. (tutorpro.us)
chromosomal segments are exchanged between two nonhomologous chromosomes. (tutorpro.us)

Lastly, IL-21 also promotes activation of the STAT3 promoter and other transcriptional factors. (intechopen.com)

A promoter sequence upstream of TMEM33 is GXP_4428588. (wikipedia.org)
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. (wikipedia.org)
The promoter sequence overlaps with the 5' untranslated region, first coding exon, and first intron of the TMEM33 gene. (wikipedia.org)
The original anti-phleomycin plasmid did not contain a sequence allowing it to be integrated into the yeast chromosome and the plasmid was therefore unstable and frequently lost from the yeast cell [1]. (i-sis.org.uk)
is a particular DNA sequence on the ends of chromosomes. (tutorpro.us)

The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster. (nih.gov)

This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. (nih.gov)
21. The insertion of genetic material into human cells for treatment of a disorder is called (Points : 4) translocation. (tutorpro.us)
Chronic Myeloid Leukemia (CML) is associated with translocation between chromosome 9 & chromosome 22, t(9;22)(q34;q11.2) and with the formation of BCR-ABL fusion gene. (who.int)
Here in, we describe a 45 yrs old male, diagnosed as CML in Chronic phase with a complex translocation involving chromosomes 7, 9 & 22. (who.int)

We therefore decided to investigate comprehensively the global and high-resolution DNA methylation dynamics during early development of a non-human primate (rhesus monkey, Macaca mulatta ). (nature.com)
Monkeys have served as one of the most valuable models for understanding DNA methylation dynamics during early embryogenesis in human due to their similarities in genetics and early embryonic development 17 , 18 . (nature.com)
CpG sites linked to these symptoms where Cri du chat patients have strong DNA methylation changes are enriched for binding of the polycomb EZH2 complex, H3K27me3, and H3K4me2, indicating changes to bivalent promoters, known to be central to embryonic developmental processes. (biomedcentral.com)
Differential methylation at one CpG island of the PARK2 promoter was observed in a small subset of subjects (β=8.74×10 −4 , p=0.006). (bmj.com)
This work provides evidence of association of the PARK2 gene and suggests that methylation of the PARK2 promoter may influence degeneration of the intervertebral disc. (bmj.com)
Aberrant changes in epigenetic mechanisms regulating DNA methylation, histone methylation and acetylation, expression of noncoding RNAs, and mRNA methylation are associated with the initiation, growth, and progression of digestive system tumors [ 2 , 4 ]. (ijbs.com)

Transcription factors can be used repeatedly at many different promoter regions. (tutorpro.us)
Transcription activators do not bind to promoter regions. (tutorpro.us)
In regions where B. burgdorferi is enzootic, sites as small as a few hectares have between 9 and 15 strains ( 4 - 6 ). (cdc.gov)

15. After it is synthesized, mRNA (Points : 4) may linger in the nucleus before moving into the cytoplasm. (tutorpro.us)
Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information. (proprofs.com)
Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)

nc886 has also been suggested to be a tumor suppressor, mainly inferred by its expression pattern as well as its genomic location at human chromosome 5q31, a locus for a tumor suppressor gene(s). (oncotarget.com)

What is the number of chromosomes in a normal human karyotype? (proprofs.com)
A normal human karyotype consists of 46 chromosomes. (proprofs.com)
This is the correct answer because it accurately represents the number of chromosomes in a normal human karyotype. (proprofs.com)

There are eight mammalian P2Y receptors known to date ( P2Y1 , P2Y2 , P2Y4 , P2Y6 , P2Y11 , P2Y12 , P2Y13 and P2Y14 ) and they are found in most human tissues. (atlasgeneticsoncology.org)
We found that TRIM13 mRNA and protein expression was reduced in NSCLC tissues and cell lines in comparison to paired non-cancerous tissues and a human normal bronchial epithelial cell line, respectively. (cancerindex.org)
Here we have investigated nc886 in gastric cancer where its expression is suppressed due to CpG DNA hypermethylation at its promoter region in a cohort of paired tumor/normal tissues from 88 gastric cancer patients. (oncotarget.com)

Transmembrane protein 33 is a protein that in humans, is encoded by the TMEM33 gene, also known as SHINC3. (wikipedia.org)
The largest and most common human TMEM33 protein is 247 amino acid long protein with 3 transmembrane domains. (wikipedia.org)
The human protein has a predicted molecular weight of 28 kDa and an isoelectric point of 9.88. (wikipedia.org)
In particular, leucine that makes up 17.8% of the human TMEM33 protein. (wikipedia.org)
The transcribed RNA has 4198 base-pairs and encodes a 359 amino acid protein. (atlasgeneticsoncology.org)
This strand has a circular chromosome (6.264 million base pairs long), that encodes 5,570 protein coding sequences. (kenyon.edu)
The fate of yeast and plant DNA, as monitored by yeast chitinase gene and the plant chlorophyll a/b binding protein gene and micro-satellite markers showed that large DNA markers were present in must (the starting fermentation mixture of mainly yeast and grape juice), while the 250 base pair micro-satellites were present in both must and young wine for up to six months [9]. (i-sis.org.uk)
Transmembrane protein 53 , or TMEM53 , is a protein that is encoded on chromosome 1 in humans. (wn.com)
Transmembrane protein 131 (TMEM131) is a protein that is encoded by the TMEM131 gene in humans. (wn.com)
The human being FAK (also called PTK2, protein tyrosine kinase 2) gene continues to be mapped to chromosome 8 (15, 16). (cahrr.org)
Background ZNF597 , encoding a zinc-finger protein, is the human-specific maternally expressed imprinted gene located on 16p13.3. (bmj.com)

METHODS: Published data, consisting of 426 Liver tumor samples and 426 paired adjacent non-tumor samples, were re-analyzed to identify the integration sites. (bvsalud.org)
We had been the 1st group to isolate human being FAK cDNA from the principal sarcoma cells and found improved FAKmRNA in tumor examples compared with regular tissue examples (2). (cahrr.org)

To check the activation of three promoters CMV, AFP, hTERT, we transfected plasmid pGL4.22-AFP, pGL4.22-hTERT and pGL4.22-CMV into three cell lines (HepG2, Huh7 and Lo2). (igem.org)
After the preliminary try on promoters, we add GAL4-VP16 into the plasmid. (igem.org)

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. (ox.ac.uk)
In few newly diagnosed CML cases, complex cytogenetics variants of the Philadelphia (Ph) chromosome can be observed with the involvement of a third chromosome other than chromosome 9 & chromosome 22. (who.int)

The morphology of HepG2 cells is epithelial and contains 55 chromosome pairs. (igem.org)

The commercial introduction of recombinant human growth hormone (rhGH) in 1985 dramatically changed the field of therapy for growth hormone (GH). (medscape.com)

The gene is composed of 4 exons and the promoter region contains the regulatory transcription factor binding sites for CREB, POU3F1 and deltaCREB. (atlasgeneticsoncology.org)
The gene product is a 6,657 base pair mRNA with 41 predicted exons in the human gene. (wn.com)

TMEM131 is located on the negative DNA strand (see Sense ) of chromosome 2 from 98,372,799 - 98,612,354. (wn.com)
The predicted promoter region spans 1002 base pairs from 98,611,892 through 98,612,893 on the minus strand of chromosome 2. (wn.com)

Interleukin-21 (IL-21) was first identified in 2000 through screening of a cDNA library from CD3+ human T cells [ 1 ]. (intechopen.com)
Gaussian online artificial photosynthesis in Human Cells Catalyzed by Phage polynucleotide Integrase Mutants, 2000 J. Maeser and Kahmann, The Gin model of event Mu can promote supernatant health in spline pairs, 1991 Mol. (scoutconnection.com)

These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)

An interstitial deletion of the pseudoautosomal region 1 (PAR1) of either of the sex chromosomes results in juxtaposition of the first noncoding exon of the P2RY8 gene to the first exon of CRLF2, such that CRLF2 expression from this chimeric locus is driven by the P2RY8 promoter. (atlasgeneticsoncology.org)
We previously localized a Quantitative Trait Locus for HPFH in an extensive Asian-Indian kindred to chromosome 6q23. (biomedcentral.com)

An enhancer region of DNA is adjacent to the promoter. (tutorpro.us)

13. Telomerase (Points : 4) is an enzyme that degrades chromosomes. (tutorpro.us)

A second non-encoding transcript exists (splice variant) that has 407 base-pairs. (atlasgeneticsoncology.org)

Furthermore, due to ethical and legal concerns, very limited techniques can be applied to human embryos to validate some of significant conclusions drawn from descriptive studies regarding human embryonic development. (nature.com)

Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. (medscape.com)

Homing endonucleases differ functionally from the more well-known restriction endonucleases in that they possess longer recognition sequences of 18-22 base pairs in length. (plos.org)
Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes. (lookformedical.com)

Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. (ox.ac.uk)
4 Department of Etiology and Carcinogenesis, National Cancer Center/National Clinical Research Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. (jci.org)
Pediatr Blood Cancer 2005(4): 420-2 [ PubMed abstract ]. (lu.se)

Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. (wikipedia.org)

However, most fragments derived from pulverized chromosomes are acentric and cannot directly bind to spindle microtubules 14 . (nature.com)

The primary promoter consists of 600 foundation pairs and contains many transcription binding sites, such as for example AP-1, AP-2, SP-1, PU.1, GCF, TCF-1, EGR-1, NF-kappa B and p53(13). (cahrr.org)

Mitotic clustering facilitates the reassembly of acentric fragments into rearranged chromosomes lacking the extensive DNA copy-number losses that are characteristic of canonical chromothripsis. (nature.com)

β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)
Cri du chat (also called 5p deletion, or monosomy 5p) syndrome is a genetic disease caused by deletions of various lengths in the short (p) arm of chromosome 5. (biomedcentral.com)

mutant HIM-8 fails to suppress mutant egl-13 on a free transgenic array, and also fails to suppress native mutant egl-13 if transgenic excess copies of the egl-13 promoter are present. (nih.gov)

The P2RY8 gene is located on both chromosomes X and Y. It was discovered by Cantagrel and co-workers while investigating a pericentric inversion on the X chromosome, inv(X)(p22.3 q13.2), in a family with mental retardation. (atlasgeneticsoncology.org)

There is an experimentally determined acetylation point is at alanine, amino acid residue 2 in humans. (wikipedia.org)
TMEM33 is predicted to have an O-glycosylation site at human amino acid residues 4 and 5 The exact secondary structure of TMEM33 is unknown, but it is predicted to be composed primarily of alpha-helices and coiled domains. (wikipedia.org)
1. Ribosomal RNA (Points : 4) covalently binds amino acids. (tutorpro.us)

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)
DNA footprinting utilizes a DNA damaging agent (either a chemical reagent or a nuclease) which cleaves DNA at every base pair. (lookformedical.com)
As transcription from the H1 Pol III promoter is more ef﫿cient and precise when a guanine ("G") or an adenosine ("A") base is found on the +1 site (Ma et al. (berterolab.com)

Numerous translocations have been observed uniquely in wine yeasts and such chromosome rearrangements involving transgenes can lead to unexpected toxicity in the final product [8]. (i-sis.org.uk)
Sequencing of daughter cell pairs derived from micronucleated mother cells demonstrated that complex rearrangements are indeed a common outcome of micronucleus formation. (nature.com)

P. aeruginosa is a ubiquitous species found in an array of different environments, including in human and other animal hosts where they act as pathogens. (kenyon.edu)
The only fully sequenced P. aeruginosa genomes (four in total) are from the strains found on human skin, although the bacterium are prevalent in aquatic environments, and plant and animal surfaces. (kenyon.edu)
We also searched for spermatogonium-specific promoters and found that the Rcd-1r promoter was able to drive specific expression at this stage. (plos.org)
We found that, these three promoters showed the possibility to make our system effective. (igem.org)
The prognosis of ADHD is poor, with some children retaining symptoms into adulthood, and a study found that the risk of premature death is twice as high in those affected with ADHD, bringing a heavy burden to society and families [ 4 ]. (biomedcentral.com)
1G/A:guanine/adenosine found on the first translated nucleotide following cloning into the H1 promoter. (berterolab.com)
Most of the tumors are found in the abdomen (65%), often in the adrenal medulla, or elsewhere in the human body where sympathetic nervous system components are present [ 2 ]. (biomedcentral.com)

1 Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. (nih.gov)

Schematic diagram of the human X chromosome indicating the location of the P2RY8 gene. (atlasgeneticsoncology.org)
A) Schematic of the generation of OPTiKD human pluripotent stem cells (hPSCs) and of the resulting genetic circuit which allows tetracycline (TET)-dependent induction of gene knockdown both in hPSCs and hPSC-derived cells. (berterolab.com)

Interestingly, recent studies suggest that increasing paternal age (father's age) can also have affects on childhood mortality [4] and neurodevelopmental outcomes. (edu.au)

The table below shows the correlation of maternal age (mother's age) and the potential risk of human genetic abnormalities in children. (edu.au)
Overexpression of ZNF597 may contribute to some of the phenotypes associated with maternal uniparental disomy of chromosome 16 (UPD(16)mat), and some patients with UPD(16)mat presenting with Silver-Russell syndrome (SRS) phenotype have recently been reported. (bmj.com)

HepG2 is an immortalized cell line consisting of human liver carcinoma cells, derived from the liver tissue of a 15-year-old Caucasian male who had a well-differentiated hepatocellular carcinoma. (igem.org)

Anatomy59

Organisms6

Diseases17

Chemicals and Drugs40

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Phenomena and Processes171

Disciplines and Occupations1

Information Science4

Genes14

Loci3

Inactivation2

Proteins2

Polymorphism4

Homologous3

Genome9

Single Nucleotide2

Polymerase2

Abnormal1

Chromosomal3

Transcriptional1

Sequence5

Homolog1

Translocation4

Methylation6

Regions3

Nucleus3

Genomic1

Karyotype3

Tissues3

Protein11

Tumor2

Plasmid2

Variants2

Epithelial1

Recombinant1

Exons2

Strand2

20002

Genetic material1

Locus2

Enhancer1

Telomerase1

Splice1

Embryonic development1

Caused by mutations1

Sequences2

Cancer3

Transcripts1

Bind1

Consists1

Facilitates1

Deletions2

Transgenic1

Inversion1

Amino3

Base3

Rearrangements2

Found7

Genetics1

Schematic2

Affects1

Maternal2

Liver1