Protein expression protein gene dosage. Medical search. Frequent questions

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage. (figshare.com)
Expression complexity of the Otx2 locus: transcriptional, post-transcriptional and translational regulation of Otx2 mRNA isoforms control specification and maintenance of forebrain and midbrain regional identities. (cnr.it)
Genes for non-apoptotic cell death and regulation of osmotic pressure were down-regulated. (wada-ama.org)
Ubiquitin functions as a reversible post-translational modifier of proteins to regulate many different cellular processes such as DNA repair, chromatin dynamics, cell cycle regulation, membrane and protein trafficking, endocytosis, autophagy, but most notably proteasome-dependent protein degradation [2-4]. (123dok.net)
We divide the field of genomics into genotyping (focused on the genome sequence), transcriptomics (focused on genomic expression) and epigenomics (focused on epigenetic regulation of genome expression). (bmj.com)
The team lead by Asifa Akhtar suggests that the origin of the MSL complex lay in the regulation of these developmental genes and was later reused also to regulate dosage compensation. (mpg.de)
The Huang (1997) paper also clearly summarizes what is known about the regulation of genes involved in dorsal/ventral patterning. (sdbonline.org)
Next, the expression model, prognostic roles, potential biological functions and epigenetic regulation of tumor suppressor long noncoding RNAs were investigated and validated in the breast cancer and pancancer cohorts. (cancerindex.org)
This determined how hierarchical interactions between regulatory elements orchestrate robust parent-specific expression, with implications for non-imprinted gene regulation. (nature.com)
Mammalian parental imprinting is a form of epigenetic regulation that causes genes to be expressed from only one chromosome homolog according to parent-of-origin 1 , 2 . (nature.com)
RNA splicing plays an important role in gene regulation. (scienceboard.net)
A complex interaction between the cleavage and polyadenylation molecular complex and cis -elements determine the polyadenylation site, which may result in the choice of non-canonical sites, resulting in alternative polyadenylation events, involved in the regulation of more than 80% of the genes expressed in plants. (frontiersin.org)
The exon junction complex (EJC) deposited on spliced mRNAs, plays a central role in the post-transcriptional gene regulation and specific gene expression. (nature.com)
This study provides the first evidence that different EJCs can have distinct functions, illuminating EJC-dependent gene regulation. (nature.com)
A shortage of functioning SALL1 protein, due to either type of mutation, likely impairs the regulation of genes that direct the development of many different organs and tissues before birth. (medlineplus.gov)
Proteins transcribed from the E1B region of ADENOVIRUSES which are involved in regulation of the levels of early and late viral gene expression. (bvsalud.org)
The protein product of the murine double minute gene 2 (mdm-2) plays a central role in the regulation of p53. (lu.se)

Nov. 18, 2020 Researchers have discovered how the MSL complex responsible for dosage compensation can distinguish the X chromosome from autosomes in flies. (sciencedaily.com)
The PMP22 gene is located on chromosome 17p11.2 and mutations as well as alterations in the gene dosage are causative for a group of hereditary neuropathies affecting approximately 1 in 2500 humans 2 , 3 . (biorxiv.org)
TOP2A (DNA topoisomerase II alpha) gene, mapped to chromosome 17q12-q21, covers approximately 27.5 kb and includes 35 exons, encoding a 170 kDa protein [ 7 ]. (jcancer.org)
An X-linked form (OMIM 300200) is caused by a mutation or deletion of the DAX1 gene (dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, also called the NR0B1 gene) on the X chromosome. (medscape.com)
The autosomal recessive form is due to a mutation or deletion of the gene that codes for steroidogenic factor 1 (SF-1) on chromosome 9q33 (OMIM 184757). (medscape.com)
If not, in phenomena such as Haploinsufficiency, aneuploidy or other forms of chromosome abnormality, these gene dosage alterations can cause severe defects ultimately resulting in developmental failures and disease. (mpg.de)
While females have two X chromosomes in their somatic cells, males possess only one X and one copy of the Y chromosome, which contains only very few genes. (mpg.de)
Flies do the opposite: if they are male, the genes on their X chromosome are read twice as much as in females. (mpg.de)
They studied how exactly a group of proteins and non-coding RNAs, namely the MSL complex increases the gene expression of the single X chromosome in male flies to achieve the same dosage as XX females. (mpg.de)
But instead of up-regulating the transcription of one entire X chromosome with several hundred genes, here it only targets individual genes. (mpg.de)
We always wondered how dosage compensation as a process to equalize gene expression of one entire chromosome could arise in the evolution of these insects," explains Asifa Akhtar the main motivation of the study. (mpg.de)
The NDR2 gene encodes a protein kinase important for neuronal development and is part of a microduplication region on chromosome 12 that is associated with intellectual disabilities, autism, and epilepsy. (uni-halle.de)
Wsm2 is the only resistance gene discovered in wheat genome and has been located in a short genomic region of its chromosome 3B. (peerj.com)
Our OrthoMCL analysis of protein coding genes on wheat chromosome 3B and its syntenic chromosomes in rice and Brachypodium discovered 4,035 OrthoMCL groups as preliminary candidates of Wsm2 orthologs. (peerj.com)
Chastain-Moore AM, Roberts T, Trott DA, Newbold RF, Ornelles DA , An activity associated with human chromosome 21 permits nuclear colocalization of the adenovirus E1B-55K and E4orf6 proteins and promotes viral late gene expression. (coriell.org)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)

In addition, heterozygote mutations in certain 'recessive' genes have been associated with late onset disease, possibly because of partial expression of the corresponding protein. (acnr.co.uk)
Smaller genetic variants (such as nonsense and frameshift mutations that result in a premature stop codon) can result in disease by producing proteins that lack key functional domains, or they may result in nonsense-mediated mRNA decay, so that no protein is produced from the mutated allele. (hstalks.com)
Splicing mutations may, like exonic deletions, result in truncated proteins or proteins in which specific residues are deleted. (hstalks.com)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
It is caused by mutations in the SMN1 gene, which encodes a protein called survival of motor neuron (SMN). (scienceboard.net)
The ability to accurately predict essential genes intolerant to loss-of-function (LOF) mutations can dramatically improve the identification of disease-associated genes. (biomedcentral.com)
While it is relatively straightforward to identify LOF mutations in protein-coding genes, it is challenging to infer their effects on evolutionary fitness and disease risk. (biomedcentral.com)
Introduction to loss of function (LOF) mutations, essential genes versus nonessential genes as well as LOF intolerance versus LOF tolerance. (biomedcentral.com)
At least 75 mutations in the SALL1 gene have been identified in people with Townes-Brocks syndrome, which is typically characterized by a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations. (medlineplus.gov)
Most SALL1 gene mutations involved in this disorder lead to the production of an abnormally short version of the SALL1 protein that malfunctions within cells. (medlineplus.gov)
Some studies suggest that mutations that reduce the amount of SALL1 protein are responsible for milder cases of Townes-Brocks syndrome, and mutations that result in an abnormally short, malfunctioning SALL1 protein underlie the more severe cases of the condition. (medlineplus.gov)
FMF mutations are gain-of-function, that is, they confer new or enhanced activity on a protein, with a gene dosage effect (ie, more copies of the abnormal gene convey a greater effect). (msdmanuals.com)
Gene mutations result in altered pyrin molecules that do not inhibit inflammasome activation and thus cannot suppress minor, unknown triggers to inflammation that are normally checked by intact pyrin. (msdmanuals.com)
[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)
All recognized mutations for AD are associated with increased deposition of amyloid-beta (Abeta), a peptide fragment comprising 39-43 amino acids that derive from the catabolism of the amyloid precursor protein (APP) molecule. (medscape.com)

DAX1 and SF1 messenger ribonucleic acid (mRNA) are expressed in the developing urogenital ridge, gonads, adrenal gland, pituitary gland, and hypothalamus, suggesting a dose-dependent role for both of these genes interacting as transcription factors important in a cascade of developmental gene expression. (medscape.com)
For the first time, they were able to show that the MSL complex also controls essential developmental genes on other chromosomes. (mpg.de)
While imprinting perturbations are widely associated with developmental abnormalities, the intricate regional interplay between imprinted genes makes interpreting the contribution of gene dosage effects to phenotypes a challenging task. (nature.com)
These results also suggest that ZNF804A dosage is critical and altered expression may lead to various developmental disorders. (biomedcentral.com)
A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)

Click on any transcript to open the specific mRNA page, to see the exact cDNA clone support and eventual SNPs and to get details on tissues, sequences, mRNA and protein annotations. (nih.gov)
In contrast, rats fed maternal LP and postnatal HF diets showed no increase in subc-AT mt copy number, oxygen consumption rate, FGF21, PRDM16 and CD137 mRNA, whereas protein expression of an inhibitor for FGF21 transcription (histone methyltransferase, G9a) increased. (nih.gov)
These findings suggest that LPHF diets cause offspring metabolic alterations by reduced BA and FGF21 mRNA and increased G9a protein expression in subc-AT. (nih.gov)
meanwhile, the mRNA expression levels of Ets-1, C-myc, Ccnd1, and C-fos were detected by reverse transcription and real-time quantitative PCR (qPCR). (hindawi.com)
The osteogenic differentiation of BMSCs was detected by alkaline phosphatase (ALP) staining, and the mRNA expression levels of ALP, OCN, COL, and Runx2 were detected by qPCR. (hindawi.com)
Genes are typically interspersed with several noncoding regions called introns that interrupt the exons that make up the final mRNA transcript. (scienceboard.net)
The initial mRNA transcript, which is called a pre-mRNA molecule, includes both introns and exons, and the process of RNA splicing removes the introns to leave a mature mRNA transcript (composed only of exons) to be translated into protein. (scienceboard.net)
A single gene can give rise to multiple proteins though alternative splicing, where different introns are removed from the same pre-mRNA to create differently spliced mature mRNAs. (scienceboard.net)
Although SMN2 is almost identical to SMN1, a variation in a single nucleotide between the two genes results in very different mRNA splicing patterns. (scienceboard.net)
The orally bioavailable, small-molecule drug modifies the splicing pattern of SMN2 mRNA to include exon 7, thereby increasing the expression of the full-length SMN protein. (scienceboard.net)
While the SMN1 gene's pre-RNA is always spliced to include exon 7, a point mutation in the SMN2 gene results in the deletion of exon 7 from the majority of mature mRNA transcripts. (scienceboard.net)
Treatment with LMI070 restores correct splicing of exon 7 in SMN2 gene mRNA transcripts. (scienceboard.net)
The 3' regulatory regions have a great diversity of cis -regulatory elements directly involved in polyadenylation, stability, transport and mRNA translation, essential to achieve the desired levels of gene expression. (frontiersin.org)
Polyadenylation is essential for the stability of the transcript, preventing the mRNA from being the target of posttranscriptional gene silencing (PTGS) via RNA-dependent RNA polymerase 6 (RDR6) in plants ( Luo and Chen, 2007 ). (frontiersin.org)

The SALL1 gene is part of a group of related genes that provide instructions for making proteins involved in the formation of tissues and organs before birth. (medlineplus.gov)
The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)

Abnormal development before birth due to unusual gene activity leads to the varied birth defects associated with Townes-Brocks syndrome. (medlineplus.gov)
Consequent abnormal expression of the cardiac and limb-specific T-box transcription factors lead to the malformations described in HOS. (medscape.com)

To determine how the ASAP complex interacts with the EJC core, we performed in vitro coprecipitation assays 3 with Tandem Affinity Purification (TAP)-tagged recombinant proteins corresponding to full-length human SAP18, RNPS1 and ACINUS. (nature.com)

This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones. (nih.gov)
Traditional linkage analysis, gene cloning and Genome Wide Association Studies (GWAS) have identified several loci and genes associated with monogenic PD. (acnr.co.uk)
Whole genome cDNA microarrays as well as oligonucleotide microarrays including leukocyte-relevant genes will be used to characterize potential hgh-specific genes by comparing gene expression profiles of treated and untreated cells. (wada-ama.org)
After confirming SSH-genes to be differentially expressed in a series of microarray experiments, oligonucleotide probes will be designed for both SSH-genes and the candidate genes identified along gene expression profiling using whole genome/leukocyte relevant arrays. (wada-ama.org)
Results obtained from gene expression profiling utilising whole genome arrays were in accordance with published data. (wada-ama.org)
A genome-wide resource for the analysis of protein localisation in Drosophila. (tcd.ie)
2 3 The HGP demonstrated that a relatively limited number of genes could be identified in the human genome, which substantiated the theory that complex biological processes were regulated on other levels than DNA sequence alone. (bmj.com)
The OMICS field ranges from genomics (focused on the genome) to proteomics (focused on large sets of proteins, the proteome) and metabolomics (focused on large sets of small molecules, the metabolome). (bmj.com)
These newly found MSL-linked sites in the genome were practically exclusively genes that control fly development and have a direct impact on cellular processes involved in organ formation," For example, we observed malformed wings or diminished eyes indicating that the MSL complex is directly regulating genes such as Wingless, which is a master controller of development," says Claudia Keller Valsecchi, first author of the study. (mpg.de)
Moreover, genome instability was attributed to impaired autophagy and several autophagy genes with tumor suppressor functions (e.g. (hindawi.com)
A deep gene duplication, which coincided with a whole-genome duplication, gave rise to two gene lineages. (lu.se)
While the existing methods are highly predictive of essential genes of long length, they have limited power in pinpointing short essential genes due to the sparsity of polymorphisms in the human genome. (biomedcentral.com)

These proteins are transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. (medlineplus.gov)

Alteration (amplification or deletion) of TOP2A gene was also significantly related to shorter survival of cancer patients. (jcancer.org)
Together, our data suggest that increased expression of Ndr2 may critically contribute to the development of intellectual disabilities upon gene amplification. (uni-halle.de)

Role of unequal crossing-over in the evolution of ribosomal genes. (cnr.it)
Identification of transcription and processing signals of ribosomal genes of D. melanogaster. (cnr.it)
It is generated by proteolytic cleavage of precursor proteins in which it is fused either to itself, constituting a polyubiquitin precursor of head-to-tail monomers, or as a single N-terminal moiety to ribosomal proteins. (123dok.net)
Understanding the role of the ubiquitin fused to ribosomal proteins becomes relevant, as these proteins are practically invariably eS31 and eL40 in the different eukaryotes. (123dok.net)
Herein, we used the amenable yeast Saccharomyces cerevisiae to study whether ubiquitin facilitates the expression of the fused eL40 (Ubi1 and Ubi2 precursors) and eS31 (Ubi3 precursor) ribosomal proteins. (123dok.net)
We conclude that ubiquitin might serve as a cis-acting molecular chaperone that assists in the folding and synthesis of the fused eL40 and eS31 ribosomal proteins. (123dok.net)
In most eukaryotes studied, ubiquitin is encoded by two classes of genes: (i) The first comprises genes coding for a single copy of ubiquitin fused to ribosomal proteins (r-proteins), most commonly eL40 and eS31. (123dok.net)
Ubiquitin fusion to other r-proteins, such as P1 or P2, and even to non-ribosomal proteins such as actin, has been reported in diverse genera of rare single-celled algae as, for example, Bigelowiella [6]. (123dok.net)
To determine the factors mediating these phenotypes, interestingly, three binding proteins of ZNF804A, galectin 1 (LGALS1), fasciculation and elongation protein zeta 1 (FEZ1) and ribosomal protein SA (RPSA), show different effects on reversing the deficits. (biomedcentral.com)

The mechanisms by which genetic variants result in loss of protein function are many and variable, and include large-scale genomic deletions that can involve multiple genes, down to smaller single-exon deletions that may result in the protein reading frame being shifted and a truncated protein, or an in-frame loss of protein sequence. (hstalks.com)
We have analyzed the phenotypic effects of a genomic ubi1∆ub-HA ubi2∆ mutant, which expresses a ubiquitin-free HA-tagged eL40A protein as the sole source of cellular eL40. (123dok.net)
gene regulatory elements, and landing pad features on q(P). We evaluated the limitations of multicopy expression from a single genomic site as well as multiple genomic sites and found that a transcriptional bottleneck can appear with an increase in gene dosage. (kaist.ac.kr)
Recently, there have been numerous computational methods developed to predict human essential genes from population genomic data. (biomedcentral.com)
Motivated by the premise that population and functional genomic data may provide complementary evidence for gene essentiality, here we present an evolution-based deep learning model, DeepLOF, to predict essential genes in an unsupervised manner. (biomedcentral.com)
Unlike previous population genetic methods, DeepLOF utilizes a novel deep learning framework to integrate both population and functional genomic data, allowing us to pinpoint short essential genes that can hardly be predicted from population genomic data alone. (biomedcentral.com)

Mammalian parental imprinting represents an exquisite form of epigenetic control regulating the parent-specific monoallelic expression of genes in clusters. (nature.com)
These ATG genes are highly conserved in mammalian cells, allowing to study their functions also in higher eukaryotes [ 1 - 4 ]. (hindawi.com)
Our study provides an extensive characterization of the multicopy TI method and elucidates the relationship between gene copy number and protein expression in mammalian cells. (kaist.ac.kr)
Feedback Control of Protein Expression in Mammalian Cells by Tunable Synthetic Translational Inhibition. (openwetware.org)
Summary: Kyoto groups creates a synthetic switch using RNA/protein to control proteins of interest in mammalian cells. (openwetware.org)
Mammalian polycomb-like pcl2/mtf2 is a novel regulatory component of prc2 that can differentially modulate polycomb activity both at the hox gene cluster and at cdkn2a genes. (openwetware.org)

Our work to generate a phenotypic mouse model for FD headed to the discovery that homozygous deletion of the mouse Elp1 gene leads to embryonic lethality prior to mid-gestation. (figshare.com)
X-linked congenital adrenal hypoplasia is due to mutation in, or deletion of, the DAX1 ( AHCH ) gene. (medscape.com)
TIPI-gTOW is also useful for analyzing genetic interactions of essential genes whose deletion mutants cannot be obtained. (biomedcentral.com)
The commonly used gene-deletion experiments reduce the expression of a target protein to 0. (biomedcentral.com)
Only about 10% to 20% of SMN2 gene transcripts are spliced into mature mRNAs coding for full-length SMN, while the remainder result in the deletion of exon 7 to encode a truncated version of the protein called SMNΔ7. (scienceboard.net)
Patients with congenital adrenal hypoplasia due to a mutation or deletion of DAX1 or SF1 (gene name NR5A1) develop hypogonadotropic hypogonadism. (medscape.com)

In addition, after transcription, a wide array of RNA-binding proteins interacts with cis -acting elements located mainly in the 3' untranslated region, determining the fate of mRNAs in eukaryotic cells. (frontiersin.org)
Our previous interactomic study revealed that ZNF804A interacts with multiple proteins to control protein translation and neural development. (biomedcentral.com)

Given that FD is caused by a reduction, not loss, of ELP1, we generated two new mouse models by introducing different copy numbers of the human FD ELP1 transgene into the Elp1 knockout mouse (Elp1-/-) and observed that human ELP1 expression rescues embryonic development in a dose dependent manner. (figshare.com)
In the early embryonic development of a female mammal, one of the two X chromosomes is inactivated so that its genes are not read twice as often as in males. (mpg.de)

Further, gene length analysis of the differentially expressed genes showed that the loss of Elp1 mainly impacts the expression of long genes and that by gradually restoring Elongator their expression is progressively rescued. (figshare.com)
Gene Dosage in the Dysbindin Schizophrenia Susceptibility Network Differentially Affect Synaptic Function and Plasticity. (tcd.ie)

To this purpose cell lines of specific leukocyte subsets (THP-1/ monocyte, IM-9/ B- lymphocyte, H9/ T-lymphocyte) and PBMCs (peripheral blood mononuclear cells) from healthy donors, respectively were treated in vitro with hgh to identify candidate hgh-sensitive genes. (wada-ama.org)
Additional a range of novel hgh sensitive genes could be discovered. (wada-ama.org)
Provided that heterozygous gene deletions and duplications actually change gene dosage, we expect to observe negative selection against CNVs encompassing dosage sensitive genes. (elsevierpure.com)
In this study, we make use of several sources of population genetic data to identify selection on structural variations of dosage sensitive genes. (elsevierpure.com)
We find that genes encoding members of protein complexes exhibit limited expression variation and overlap significantly with a manually derived set of dosage sensitive genes. (elsevierpure.com)
We show that complexes and other dosage sensitive genes are underrepresented in CNV regions, with a particular bias against frequent variations and duplications. (elsevierpure.com)

In male fruit flies (Drosophila), the expression -- or activity -- of genes on most of the single X chromosomes is doubled to match the expression of the two X chromosomes in female cells. (sciencedaily.com)
Isolation and expression analysis in murine embryos of Dlx5 and Dlx6, two murine homologues of the Drosophila Distal-less gene. (cnr.it)
A C-terminal ataxin-2 disordered region promotes Huntingtin protein aggregation and neurodegeneration in Drosophila models of Huntington's disease. (tcd.ie)

Since the sex chromosomes carry genetic instructions for traits that go beyond gender determination, a process -- called dosage compensation -- evolved to ensure that the X chromosomes in males and females are expressed at the same level. (sciencedaily.com)
These disorders have in common that the associated genetic alterations result, in most cases, in altered expression or function of the protein product of the relevant gene, which then directly or indirectly leads to pathophysiological changes that result in disease. (hstalks.com)
The aim of this lecture is to provide selected examples of the links between different types of genetic and epigenetic alterations, and the diversity of ways in which they can impact protein function and lead to human genetic disease. (hstalks.com)
Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.com)
Role of Otx1 and Otx2 in brain evolution: functional equivalence between the invertebrate Orthodenticle and the murine OTX1 and OTX2 gene products supports a conserved genetic program of brain development between insects and mammals. (cnr.it)
In this study, we used the TEV protease-mediated induction of protein instability (TIPI) in combination with the genetic Tug-of-War (gTOW) to develop a method to measure the lower limit of protein level. (biomedcentral.com)
TIPI-gTOW is useful for estimating changes in the lower limit of a protein under different conditions, such as different genetic backgrounds and environments. (biomedcentral.com)
Using mouse models with distinct deletions in an intergenic region controlling imprinting across the Dlk1-Dio3 domain, we link changes in genetic and epigenetic states to allelic-expression and phenotypic outcome in vivo. (nature.com)
Among the top genetic associations, zinc finger protein 804A ( ZNF804A ) gene encodes a zinc finger protein, associated with SZ and biolar disorder (BD). (biomedcentral.com)
This idea explores new avenues of pharmaceutical care as it involves tailoring the right medication, dose, and regimen, for the patient, as per the more traditional roles of pharmacy and medical practice with a genetic twist: Not every drug may be suitable for a patient because not every patient has the right genes involved in metabolizing the drug. (ubc.ca)
Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Affinity tags can reduce merohedral twinning of membrane protein crystals. (lu.se)
Further sequence analysis suggests that the protein products of Wsm2 may combat WSMV disease through a molecular mechanism involving protein degradation and/or membrane trafficking. (peerj.com)
Interestingly, recent data suggest a function for ULK1 not only during autophagy activation but also during elongation and closure of the autophagosomal membrane via binding to ATG8 proteins [ 8 ]. (hindawi.com)
Epstein-Barr virus latent membrane protein expression and cyclin DI cell cyase protein expression in malignant and normal oesophageal tissues to see whether any variation in their expression in these tissues could be of diagnostic or prognostic value. (bvsalud.org)

If the target protein expression reaches the upper limit, i.e., essential cellular functions come to a halt when the level of protein exceeds a certain limit, the gene/plasmid copy number must decrease to below the upper limit. (biomedcentral.com)
Each of these proteins must have a minimal requirement level (i.e., the lower limit) to support cellular growth under each of these conditions. (biomedcentral.com)
These results indicate that the gene-dosage of ZNF804A affects the transcriptome and cellular function. (biomedcentral.com)
These observations strongly suggest the implication of EJC in fine-tuning of specific gene expression in different cellular contexts. (nature.com)
For example, some research indicates that the abnormally short SALL1 protein interferes with proteins that control the formation of cellular structures called cilia. (medlineplus.gov)

Yet, the intricate form of epigenetic control over the parent-specific expression of multiple genes in an imprinted cluster poses difficulties when trying to decipher the relative contribution of changes in imprinted gene dosage to the resulting physiological phenotypes. (nature.com)

Ubiquitin is a highly conserved small eukaryotic protein. (123dok.net)

To further examine the effect of gene dosage of ZNF804A on neurite morphology, both knockdown and overexpression of ZNF804A in primary neuronal cells significantly attenuate dendritic complex and spine formation. (biomedcentral.com)

Familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy, is caused by a mutation in the Elongator complex protein 1 (ELP1) gene that lead to a tissue-specific reduction of ELP1 protein. (figshare.com)
7 The mutation (A53T) in a large Italian kindred (the Contoursi kindred) occurred in the synuclein gene (SNCA). (acnr.co.uk)
Specifically, a long gene typically has a large expected number of LOF variants under a neutral mutation model. (biomedcentral.com)
The malfunctioning protein is thought to interfere with normal copies of the SALL1 protein, which are produced from the other copy of the SALL1 gene that does not have a mutation. (medlineplus.gov)
This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)
The frameshift mutation results in the formation of a truncated protein which cannot fold properly, promoting aggregation, and subsequent deposition in tubular cells. (medscape.com)

To find additional hgh-candidate genes, suppression subtractive hybridization (SSH) technology will be applied on hgh-treated PBMCs and on those cultured leukocyte subsets which showed a response to hgh before during in vitro studies. (wada-ama.org)
Initial in vitro studies were conducted by adapting SMN2's exon 6/7/8 region into an expression cassette to control the expression of any gene cloned into it. (scienceboard.net)

Compared with previous methods, DeepLOF shows unmatched performance in predicting ClinGen haploinsufficient genes, mouse essential genes, and essential genes in human cell lines. (biomedcentral.com)
Furthermore, DeepLOF discovers 109 novel essential genes that are too short to be identified by previous methods. (biomedcentral.com)
The predictive power of DeepLOF shows that it is a compelling computational method to aid in the discovery of essential genes. (biomedcentral.com)
The rationale behind these prediction methods is that essential genes, with minimal inter-individual variation, are subject to purifying selection in order to maintain their sequence in the population, as alterations would lead to reduced fitness. (biomedcentral.com)

AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)
The truncated form is degraded within the cell almost immediately, but the small percentage of SMN2 mRNAs which are successfully translated into full-length SMN protein can lessen the severity of SMA (caused by the absence of a functional SMN1 gene). (scienceboard.net)
As a result, mRNAs transcribed from the SMN1 gene are translated into full-length SMN protein, while most of those transcribed from the SMN2 gene are translated into a truncated protein, SMNΔ7. (scienceboard.net)
AceView: gene:dpy-21, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)
The 3 spliced mRNAs putatively encode good proteins , altogether 3 different isoforms (1 complete, 2 partial ), some containing a coiled coil stretch [Psort2] . (nih.gov)

August 31, 2021 -- A new alternative splicing system called Xon can modulate levels of protein expression in gene therapy, much like a dimmer switch. (scienceboard.net)

Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation. (tcd.ie)
Mesectoderm differentiation is controlled by the bHLH-PAS gene, sim . (sdbonline.org)
We found a significantly lower expression of key autophagy- (ATG-) related genes in primary AML as compared to healthy granulocytes, an increased autophagic activity during all- trans retinoic acid- (ATRA-) induced neutrophil differentiation, and an impaired AML differentiation upon inhibition of ATG3, ATG4D, and ATG5. (hindawi.com)

[ 13 ] DAX1 appears to suppress expression of the SF1- regulated steroidogenic acute regulatory (StAR) protein promoter. (medscape.com)
Although a small number of 3' regulatory regions have been identified and validated so far, many studies have shown that plant 3' regulatory regions have a higher potential to regulate gene expression in plants compared to widely used 3' regulatory regions, such as NOS and OCS from Agrobacterium tumefaciens and 35S from cauliflower mosaic virus. (frontiersin.org)
In this review, we discuss the role of 3' regulatory regions in gene expression, and the superior potential that plant 3' regulatory regions have compared to NOS, OCS and 35S 3' regulatory regions. (frontiersin.org)
The availability of multiple PAS in the same 3' regulatory region enables the inclusion or exclusion of 3' untranslated region (3'UTR) sequences, resulting in transcripts that may differ in particularities involving post-transcriptional processes such as stability, transport and translation ( Mayr, 2016 ), and even protein localization ( Berkovits and Mayr, 2015 ). (frontiersin.org)
Here, using recombinant complex reconstitution and transcriptome-wide analysis, we showed that the EJC peripheral protein complexes ASAP and PSAP form distinct complexes with the EJC core and can confer to EJCs distinct alternative splicing regulatory activities. (nature.com)

The Exon Junction Complex (EJC) plays a central role in post-transcriptional gene expression control. (nature.com)

Studies in yeast have identified a series of autophagy- (ATG-) related genes forming the autophagy machinery. (hindawi.com)

Isolation and characterization of alternative messenger RNAs coding class I HLA genes. (cnr.it)
The expression of the identified long noncoding RNAs was downregulated in cancer tissue samples compared with normal tissue samples, and these long noncoding RNAs correlated with a favorable prognosis in breast cancer patients and the patients in the pancancer cohort. (cancerindex.org)

The roles of DAX1 and the undefined autosomal recessive gene in development of the adrenal cortex are not understood. (medscape.com)
The autosomal recessive gene appears to be important in the development of both the fetal adrenal cortex and the definitive adult adrenal cortex because both are hypoplastic in this form of congenital adrenal hypoplasia. (medscape.com)
SMA is an autosomal recessive inherited disorder, meaning both copies of the inherited gene (one from each parent) must be defective. (scienceboard.net)

We then conducted a comprehensive transcriptome analysis in mouse embryos to identify genes and pathways whose expression correlates with the amount of ELP1. (figshare.com)
Expression analysis of several Hox genes in human embryos. (cnr.it)
Isolation and expression analysis both in invertebrate and vertebrate embryos of a new homeobox containing gene named Orthopedia (Otp). (cnr.it)
There are five distinct thresholds of gene activity in response to the Dorsal nuclear gradient in early embryos. (sdbonline.org)
This enhancer contains a cluster of low-affinity Dl binding sites that restrict expression to the ventral-most regions of early embryos. (sdbonline.org)

A complex of proteins called the dosage compensation complex is responsible for upregulating gene expression in somatic (non-reproductive) cells. (sciencedaily.com)

Mechanistically, EPB41L4A-AS2, acting at least in part as a tumor suppressor, upregulated tumor suppressor gene expression. (cancerindex.org)
Autophagy functions in tumor suppression by, for example, preserving protein and organelle homeostasis. (hindawi.com)

abstract = "Numerous factors shape the evolution of protein-coding genes, including shifts in the strength or type of selection followinggene duplications or changes in the environment. (lu.se)
abstract = "Dosage sensitivity is an important evolutionary force which impacts on gene dispensability and duplicability. (elsevierpure.com)

Ubiquitin is a small eukaryotic protein of 76 amino acids whose name (i.e., it occurs ubiquitously) results from its remarkable evolutionary conservation [1]. (123dok.net)

Interestingly, tumors with both negative mdm-2 and p21 expression, irrespective of p53 status, had a high response rate to docetaxel but no response to MF. (lu.se)

Proteínas transcritas a partir de la región E1B del genoma de ADENOVIRUS, que estan involucradas en la regulación de los niveles precoces y tardios de expresión genética viral. (bvsalud.org)

Caenorhabditis elegans gene him-8 , high Incidence of Males, encoding HIM-8 like family member. (nih.gov)
Caenorhabditis elegans gene dpy-21 , DumPY : shorter than wild-type. (nih.gov)

To reduce the expression of a gene/protein, we need to reduce the production rate of the transcript, increase the degradation rate of the transcript, decrease the production rate of the protein, or increase the degradation rate of the protein. (biomedcentral.com)
Autophagosomes engulf cytoplasmatic components and deliver these cargos, for example, long-lived proteins or damaged mitochondria, to lysosomes for degradation. (hindawi.com)

Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. (medlineplus.gov)

For patients who have a variant gene for the metabolism of specific drugs, they could metabolize the drug too slowly and thus be at a higher risk for drug toxicity, or they could metabolize a drug too quickly and not be able to achieve therapeutic effects in the body. (ubc.ca)

The invention addresses a major shortcoming of most gene therapies, which is the ability to regulate gene expression levels in diseases like spinal muscular atrophy (SMA). (scienceboard.net)

We compiled SITs from 37 diatom genomes to characterize shifts in selection following gene duplications and marine- freshwater transitions. (lu.se)
Summary: Characterize the role chromatin barriers with regard to gene expression of the irradiation-responsive enhancer region which is under silencing control via H3K27me3. (openwetware.org)

Low expression of the autophagy initiator ULK1 in AML can partially be attributed to high expression of the ULK1-targeting microRNA-106a. (hindawi.com)
The process of canonical autophagy follows a hierarchical-ordered recruitment of autophagy-related (ATG) proteins to the phagophore assembly site [ 5 ]. (hindawi.com)
The ULK1 protein complex including ULK1, ATG13, and FIP200 coordinates the autophagy initiation from different upstream signaling pathways to induce autophagy [ 6 , 7 ]. (hindawi.com)

Through APA, a single gene containing multiple PAS can generate a considerable number of transcript isoforms, thereby producing a highly diversified transcriptome ( Tian and Manley, 2013 ). (frontiersin.org)

Researchers of the Max Planck Institute of Immunobiology and Epigenetics in Freiburg now discovered the evolutionary origin of this epigenetic phenomenon called dosage compensation. (mpg.de)
To buffer the copy number differences between the sexes, humans, fruit flies as well as many other organisms rely on an epigenetic mechanism called dosage compensation. (mpg.de)
In recent years, the laboratory of Asifa Akhtar at the Max Planck Institute of Immunobiology and Epigenetics (MPI-IE) in Freiburg has been able to gain numerous insights into this epigenetic balancing mechanism that is important for dosage compensation. (mpg.de)
Our work indicates that parental origin of an epigenetic state is irrelevant as long as appropriate balanced gene expression is established and maintained at imprinted loci. (nature.com)

We developed a conditional transgenic mouse with increased Ndr2 expression in postmigratory forebrain neurons to study the consequences of an increased gene dosage of this Hippo pathway kinase on brain circuitry and cognitive functions. (uni-halle.de)

Given that Wsm2 is likely duplicated through an intrachromosomal illegitimate recombination and that Wsm2 is dominant, we inferred that this new WSMV-resistance gene acquired an activation domain, lost an inhibition domain, or gained high expression compared to its ancestor locus. (peerj.com)

The increase in ALP, mineral deposition, and osteoblastic genes induced by the mechanical stretch-EPO combination was inhibited by U0126, an ERK1/2 inhibitor. (hindawi.com)
Amyloidosis Amyloidosis is any of a group of disparate conditions characterized by extracellular deposition of insoluble fibrils composed of misaggregated proteins. (msdmanuals.com)

This classification is imperfect as it contains both confirmed and unconfirmed loci (loci not replicated) and the causative gene remains unknown for many loci. (acnr.co.uk)

That complex doesn't exist in germ cells, so it was assumed that dosage compensation occurred in those cells by some other mechanism," said lead author Colin Meiklejohn, "We showed there is no upregulation of X chromosomes in the testes of flies. (sciencedaily.com)
It has to be ensured that genes on these chromosomes are read equally to generate the same amount of output. (mpg.de)

The PE enhancer from the twist promoter region exhibits a similar pattern of expression. (sdbonline.org)
In gTOW, we clone a target gene with its native promoter into a 2 μ-based plasmid harboring leu2d . (biomedcentral.com)
After implantation, a secondary DMR is established at the promoter of the Gtl2 gene, sustaining its repression from the paternal allele. (nature.com)
UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)

Genes clustering in the categories fatty acid beta oxidation, cell adhesion, DNA replication and polyamine biosynthesis were up-regulated indicating increased lipolysis, cell attachment, proliferation and growth. (wada-ama.org)

Although Novartis has since abandoned development of LMI070 in favor of newer therapeutics for the treatment of SMA, clinical trial data from the SMA study indicated that the drug also decreased expression of huntingtin protein, an important therapeutic target for Huntington's disease. (scienceboard.net)
The ever-growing biopharmaceutical industry relies on the production of recombinant therapeutic proteins in Chinese hamster ovary (CHO) cells. (kaist.ac.kr)

This mutant shows a severe slow-growth phenotype, which could be fully suppressed by increased dosage of the ubi1∆ub-HA allele, or partially by the replacement of ubiquitin by the ubiquitin-like Smt3 protein. (123dok.net)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

Normally, the conjugation of ubiquitin to other proteins involves the formation of an isopeptide bond between the α-carboxyl group of the C-terminal glycine of a ubiquitin molecule with an ε-amino group of a specific lysine residue within the target protein [2,3]. (123dok.net)

Excess expression of DAX1 in the male mouse results in reversal of phenotypic sex. (medscape.com)

Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders. (tcd.ie)
Copy number variants (CNVs) of ZNF804A have been observed in patients with autism spectrum disorders (ASDs), anxiety disorder, and BD, suggesting that ZNF804A is a dosage sensitive gene for brain development. (biomedcentral.com)

Molecular mechanism controlling the expression of the HOX Complex gene family in human teratocarcinoma cells (N-tera2/D1). (cnr.it)
Identification of an Otx gene-dosage dependent mechanism required for patterning of developing brain and proper positioning of midbrain-hindbrain isthmic organizer. (cnr.it)
In flies, the MSL complex has emerged as a molecular balancing mechanism to ensure the same amount of gene output in both sexes. (mpg.de)
Eukaryotes have a mechanism termed alternative polyadenylation (APA), which allows the selective use of PAS in genes containing multiple PAS. (frontiersin.org)
Summary: IGF-II (insulin-like growth factor 2), a critical regulator of skeletal myogenesis, as a direct and major target of miR-125b in both myocytes and regenerating muscles, This article revealing for the first time an miRNA mechanism controlling IGF-II expression. (openwetware.org)

Anatomy19

Organisms17

Diseases18

Chemicals and Drugs69

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Psychiatry and Psychology1

Phenomena and Processes109

Disciplines and Occupations2

Technology, Industry, Agriculture1

Information Science4

Health Care1

Regulation17

Chromosome16

Mutations16

Developmental5

MRNA14

Group of related genes2

Abnormal2

Recombinant proteins1

Genome12

Transcription Factors1

Amplification2

Ribosomal9

Genomic6

Mammalian6

Deletion6

Interacts2

Embryonic development2

Differentially2

Sensitive genes6

Drosophila3

Genetic11

Membrane4

Cellular5

Multiple genes1

Highly conserved1

Overexpression1

Mutation6

Vitro studies2

Essential genes4

MRNAs5

Modulate1

Differentiation3

Regulatory5

Post-transcriptional1

Yeast1

RNAs2

Recessive3

Embryos5

Somatic1

Tumor2

Abstract2

Eukaryotic1

Interestingly1

Adenovirus1

Caenorhabditis2

Degradation2

Deletions1

Toxicity1

Regulate gene expression1

Characterize2

Autophagy3

Single gene1

Epigenetic4

Kinase1

Locus1

Deposition2

Causative1

Chromosomes2

Promoter4

Cell adhesion1

Therapeutic2

Allele2

Conjugation1

Phenotypic1

Disorders2

Mechanism5