• mutants
  • I know that counterselectable markers are often instrumental for the construction of mutants when under appropriate growth conditions, a counterselectable gene promotes the death of the microorganisms harboring it. (protocol-online.org)
  • Importantly, while the identified gene deletion mutants are prone to cytokinesis failure in the presence of LatA, they are nevertheless fully capable of cell division in the absence of the drug. (g3journal.org)
  • Insertion mutants that are still able to survive or grow are not in essential genes. (wikipedia.org)
  • homozygous
  • SD07, which has an immunoglobulin κ rearrangement identical to that of lymphoma cells at CD20-negative relapse, showed homozygous deletion of the CD20 gene with loss of the copy number of 11q12. (wiley.com)
  • For instance, sequencing the genomes of 2,636 Icelandic citizens and the genotyping of 101,584 additional subjects found 8,041 individuals who had 1 gene completely knocked out (i.e. these people were homozygous for a non-functional gene). (wikipedia.org)
  • locus
  • This gene is located in the RH gene locus, between the RHD and RHCE genes. (wikipedia.org)
  • At 4.7 million nucleotides in length and ~300 genes the locus had resisted the effects of recombination, either as a consequence of recombination-obstruction within the DNA, as a consequence of repeated selection for the entire haplotype, or both. (wikipedia.org)
  • Genes known to be deleted are CHM and POU3F4, both located on the Xq21 locus. (wikipedia.org)
  • mutations
  • NPM1 deletion, hypermethylation, or mutations were not found in any of the 23 patients with isolated 5q- while loss of one copy of NPM1 was found in 7/30 patients with 5q- associated with complex karyotype. (haematologica.org)
  • We suggest that large NF1 deletions (1) are not always associated with unusual clinical features, (2) tend to occur more frequently on maternal alleles, and (3) are an important mechanism for constitutional and somatic mutations in NF1 patients. (bmj.com)
  • Mutations in this gene or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. (wikipedia.org)
  • In a computational analysis of genetic variation and mutations in 2,472 human orthologs of known essential genes in the mouse, Georgi et al. (wikipedia.org)
  • Of the 8,041 individuals with complete knock-outs, 6,885 were estimated to be homozygotes, 1,249 were estimated to be compound heterozygotes (i.e. they had both alleles of a gene knocked out but the two alleles had different mutations). (wikipedia.org)
  • When mutations in the FBN-1 or FBN-2 genes occur, significant deformations can result from the damage to the extracellular matrix. (wikipedia.org)
  • Mutations in the FBN1 gene are associated with Marfan syndrome and its variant Marfanoid-progeroid-lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome. (wikipedia.org)
  • haplotypes
  • Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. (wikipedia.org)
  • Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. (wikipedia.org)
  • Multigene haplotypes following standard dynamics only exist in robust populations for a short time, the average distance between genes of about 200,000 nts, which means that over 250 generations (~5000 years) one expects 1/2 of adjacent genes to have new gene-alleles, unless the genes are small and very close together. (wikipedia.org)
  • partial
  • However, two patients showed partial LOH, consistent with somatic mosaicism for the deletion, suggesting that mosaicism may be more frequent in NF1 than previously recognised (and may have bearing on clinical severity). (bmj.com)
  • protein
  • Gene expression profiling was performed using a Taqman Gene Expression Assay (Cat#4331182, SEC16A-Hs00389570_m1, GAPDH-Hs99999905_M1) and protein expression was assessed using Western analysis using a commercial SEC16A antibody. (bmj.com)
  • The in-frame deletion had no significant impact on gene or protein expression. (bmj.com)
  • Although this in-frame deletion had no significant impact on gene or protein expression, a detrimental impact on protein structure of SEC16A remains a possibility and is currently under investigation. (bmj.com)
  • The association of this deletion within the SEC16A gene with AxSpA is particularly interesting given that the gene product plays a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. (bmj.com)
  • The new fusion protein might be pathogenic due to different mechanisms: the emergence of a new polypeptide that combines functional domains from two different genes, the deregulated expression of any coding sequence by the promoter region of a neighboring gene and/or a putative dominant-negative effect due to the preservation of functional domains of partially truncated proteins. (hindawi.com)
  • Haptoglobin (abbreviated as Hp) is the protein that in humans is encoded by the HP gene. (wikipedia.org)
  • Transmembrane protein 50A is a protein that in humans is encoded by the TMEM50A gene. (wikipedia.org)
  • NKG2-C type II integral membrane protein is a protein that in humans is encoded by the KLRC2 gene. (wikipedia.org)
  • Complement component 4B (Chido blood group) is a protein that in humans is encoded by the C4B gene. (wikipedia.org)
  • Probable DNA dC->dU-editing enzyme APOBEC-3B is a protein that in humans is encoded by the APOBEC3B gene. (wikipedia.org)
  • FBN1 is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme furin convertase to give fibrillin-1, a member of the fibrillin family, and the 140-amino-acid long protein hormone asprosin. (wikipedia.org)
  • Ig gamma-3 chain C region is a protein that in humans is encoded by the IGHG3 gene. (wikipedia.org)
  • Consequences
  • Chimeric genes can have different possible consequences: when due to a deletion, not only the loss of a fully functional copy of the gene is especially relevant for haploinsufficient genes, but also the gain-of-function of the chimeric gene. (hindawi.com)
  • Journal of Neuroinflammation (2015) 12:163 DOI /s JOURNAL OF NEUROINFLAMMATION RESEARCH Behavioural and neurobiological consequences of macrophage migration inhibitory factor gene deletion in mice Open Access Cecilie Bay-Richter 1*, Shorena Janelidze 2, Analise Sauro 3, Richard Bucala 4, Jack Lipton 5, Tomas Deierborg 6 and Lena Brundin 3,7 Abstract Background: Evidence from clinical studies and animal models show that inflammation can lead to the development of depression. (docplayer.net)
  • mice
  • Slpi− / − mice had impaired collagen gene expression but animals demonstrated minimal reduction in lung fibrosis compared with wild-type animals. (nottingham.ac.uk)
  • coding sequence
  • Alternatively, a chimeric gene may also be pathogenic by different gain-of-function mechanisms that are not restricted to dose-sensitive genes: the emergence of a new polypeptide that combines functional domains from two different genes, the deregulated expression of any coding sequence by the promoter region of a neighboring gene, and/or a putative dominant-negative effect due to the preservation of functional domains of partially truncated proteins. (hindawi.com)
  • marker
  • The problem is i am using a suicide vector pFS100 a derivative of pGP704 carrying a 'pir' dependent origin of replication from plasmid R6K and gene encoding resistance to ampicillin and kanamycin but no sacB gene marker in it. (protocol-online.org)
  • Thus, we developed a blaster recyclable marker system by using the pyrG gene (encoding an orotidine-5'-phosphate decarboxylase, ortholog of URA3 in Saccharomyces cerevisiae ). (g3journal.org)
  • A 237-bp fragment downstream of the pyrG gene was tandemly incorporated into the upstream region of the gene, resulting in construction of a pyrG-dpl237 marker. (g3journal.org)
  • To test the functionality of the pyrG-dpl237 marker, we disrupted the carp gene that is involved in carotenoid synthesis in pyrG - mutant background. (g3journal.org)
  • These results demonstrate that the recyclable marker system is fully functional, and therefore the pyrG-dpl237 marker can be used for sequential gene deletions in M. circinelloides . (g3journal.org)
  • Sox9 blocked osteochondroprogenitor cells were found to express osteoblast marker genes, reprogramming the cells into the osteoblastic lineage. (wikipedia.org)
  • BDNF
  • Researchers found five individuals with BDNF deletions, all of whom were obese, had a mild-moderate intellectual impairment, and had a mood disorder. (psychcentral.com)
  • The results of the new study, published in the Archives of General Psychiatry , reveal for the first time the link between BDNF deletion, cognition, and weight gain in humans. (psychcentral.com)
  • Linking a deletion in BDNF conclusively to mood and anxiety really tells us that it is possible to dissect the biological pathways involved in determining how we feel and act. (psychcentral.com)
  • All of the participants in our study had mild-moderate intellectual disability, but most people with these cognitive problems do not have psychiatric problems - so what is it about deletion of BDNF that affects mood? (psychcentral.com)
  • genotypes
  • A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci. (bmj.com)
  • steroid
  • It has also been used with the steroid sulfatase gene. (wikipedia.org)
  • Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). (wikipedia.org)
  • mutation
  • Of 67 patient/parent sets (47 new mutation patients and 20 familial cases), five (7.5%) showed loss of heterozygosity (LOH), indicative of NF1 gene deletion. (bmj.com)
  • Most of the smaller deletions resulted in an out-of-frame mutation. (youscribe.com)
  • Confirmation of single-exon deletion is recommended to exclude single base deletion or mutation at the MLPA ligation site. (youscribe.com)
  • absence
  • In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. (wikipedia.org)
  • PAO1
  • Now both my vector (pFS100) as well as PAO1 has no sacB gene. (protocol-online.org)
  • f) Deduced by comparison of the two gene essentiality datasets obtained independently in the P. aeruginosa strains PA14 and PAO1. (wikipedia.org)
  • found
  • As expected, we found genes affecting cytokinesis and/or the actin cytoskeleton within this set ( ain1 , acp2 , imp2 ). (g3journal.org)
  • found strong, purifying selection and comparatively reduced levels of sequence variation, indicating that these human genes are essential too. (wikipedia.org)
  • This gene along with APOBEC3A have been in recent years found associated with mutagenesis of several cancers. (wikipedia.org)
  • humans
  • Note that many genes in humans are not absolutely essential for survival but can cause severe disease when mutated. (wikipedia.org)
  • While it may be difficult to prove that a gene is essential in humans, it can be demonstrated that a gene is not essential or not even causing disease. (wikipedia.org)
  • human
  • The new study helps provide a better understanding of human behavior and mood by clearly identifying genes associated with mental disorders. (psychcentral.com)
  • In addition, the haptoglobin gene is expressed in murine and human adipose tissue. (wikipedia.org)
  • In these individuals, a total of 1,171 of the 19,135 human (RefSeq) genes (6.1%) were completely knocked out. (wikipedia.org)
  • Human APOBEC3B genome location and APOBEC3B gene details page in the UCSC Genome Browser. (wikipedia.org)
  • region
  • Although not contained within any common deleted region on 5q, NPM1 can be deleted in 5q- cases with large chromosomal deletions. (haematologica.org)
  • The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. (wikipedia.org)
  • patients
  • The deletion of 5q is a frequent chromosomal abnormality in patients with MDS. (haematologica.org)
  • These five patients did not have severe NF1 manifestations, mental retardation, or dysmorphic features, in contrast to previous reports of large NF1 deletions. (bmj.com)
  • We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. (hindawi.com)
  • This paper describes three nonrelated patients with ID and different CNVs detected by array-CGH, generating different chimeric genes confirmed by different strategies. (hindawi.com)
  • All the genes forming the fusion transcript might have an important role in the central nervous system (CNS) development and/or in gene expression regulation and therefore may contribute to the phenotype of both patients. (hindawi.com)
  • whereas
  • g) The original result of 271 essential genes has been corrected to 261, with 31 genes that were thought to be essential being in fact non-essential whereas 20 novel essential genes have been described since then. (wikipedia.org)
  • alteration
  • The alteration of the CD20 gene is reported as infrequent in CD20-negative relapse in B-cell lymphoma. (wiley.com)
  • Genomic alteration of the PTEN gene in SD07. (wiley.com)
  • According to Kaye [ 1 ], chromosomal translocations and fusion oncogenes are the most frequent type of somatic DNA alteration in cancer, detected in 282 of the 384 validated cancer genes. (hindawi.com)
  • experiments
  • Such experiments have led to the conclusion that the absolutely required number of genes for bacteria is on the order of about 250-300. (wikipedia.org)
  • expression
  • SD07 is the first case in which it is proven that the loss of CD20 expression in relapsed DLBCL is the result of deletion of the CD20 gene. (wiley.com)
  • Lung fibrosis was determined by collagen subtype-specific gene expression, hydroxyproline concentration, and histological assessment. (nottingham.ac.uk)
  • These data suggest that enhanced proteolysis does not further enhance TGF-β activation, and inhibits sustained Col1α1, Col3α1, and Col4α1 gene expression following lung injury. (nottingham.ac.uk)
  • VHL gene deletion and enhanced VEGF gene expression detected i. (mysciencework.com)
  • VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma. (mysciencework.com)
  • large
  • Conclusions Full exome sequencing of a large multigenerational AxSpA family revealed a 9-bp deletion in SEC16A segregating in the majority of affected family members. (bmj.com)
  • Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. (bmj.com)
  • single
  • Verifying single-exon deletion, one sample with a deletion of exon 53 that was initially observed from MLPA showed that there was a single base deletion that abolished the ligation site in MLPA. (youscribe.com)
  • d) Includes predicted gene essentiality and data compilation from published single-gene essentiality studies. (wikipedia.org)
  • cells
  • Hairy cells are nearly mature B cells, which are activated clonal cells with signs of VH gene differentiation. (wikipedia.org)
  • different
  • The observed phenotype then may be a consequence of the CNV itself, but the chimeric gene might contribute and modify it, as in those cases with a wide spectrum phenotype associated to similar CNVs with different breakpoints. (hindawi.com)
  • While other diseases, like type 1 diabetes may have several, highly different, genes that attribute risk. (wikipedia.org)
  • identify
  • Recently, systematic attempts have been made to identify those genes that are absolutely required to maintain life, provided that all nutrients are available. (wikipedia.org)
  • free
  • 2015) A Tool for Multiple Targeted Genome Deletions that Is Precise, Scar-Free, and Suitable for Automation. (aber.ac.uk)