• target genes
  • This derepresses the CBP proteins, and allows them to perform their function of upregulating transcription of their target genes. (wikipedia.org)
  • Enhancers can regulate transcription of genes at large distances by looping to physically contact their target genes. (wikipedia.org)
  • this chromatin loop structure helps constrain the ability of enhancers within the loop to target genes outside the loop. (wikipedia.org)
  • Insulated neighborhoods aid in identifying the target genes of disease-associated enhancer variants. (wikipedia.org)
  • Identifying target genes of enhancers with disease-linked variants has been difficult because enhancers may act over long distances, but the constraint on enhancer-gene targeting by insulated neighborhoods refines the prediction of target genes. (wikipedia.org)
  • KCNQ1
  • Kv7.1 (KvLQT1) is a potassium channel protein whose primary subunit in humans is encoded by the KCNQ1 gene. (wikipedia.org)
  • allele
  • In the more 3' region, which is fully methylated in sperm, the level of methylation on the paternal allele is highly tissue-specific and is correlated with expression of the gene in fetal tissues. (semanticscholar.org)
  • Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription. (semanticscholar.org)
  • This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. (mybiosource.com)
  • The DNA from one parent may be epigenetically modified so that only a single allele of the imprinted gene is expressed in the offspring. (biomedcentral.com)
  • Thus, phenotype expression of imprinted genes is a consequence not only of sequence variation per se , but also of methylation and histone modifications that silence one allele, allowing a normal state of monoallelic gene expression without altering DNA sequence. (biomedcentral.com)
  • This imprint control region is normally bound by an insulator on the maternal allele, which represses an enhancer from acting on the Igf2 gene. (wikipedia.org)
  • This insulator is absent on the paternal allele and allows it access to the gene. (wikipedia.org)
  • The H19 gene is expressed exclusively on one parental allele in a phenomenon known as imprinting. (wikipedia.org)
  • 1969
  • some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al. (nih.gov)
  • disease
  • Imprinted genes are in fact only one mechanism through which transmission of disease risk from parent to offspring may be influenced by the sex of the parent transmitting the susceptibility factor. (biomedcentral.com)
  • Mitochondrial transmission is different from disease susceptibility genes that are transmitted on autosomes but which are expressed in the offspring in a sex-specific manner. (biomedcentral.com)
  • Dysregulation of derepression mechanisms can result in altered gene expression patterns, which may lead to negative phenotypic consequences such as disease. (wikipedia.org)
  • This gene may play a role in malignancies and disease that involve this region as well as hematopoietic cell function. (wikipedia.org)
  • At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome. (wikipedia.org)
  • This gene may play a role in malignancies and disease that involve this region as well as the transport of chloroquine- and quinidine-related compounds in the kidney. (wikipedia.org)
  • Insulated neighborhoods are functionally important in understanding gene regulation in normal cells and dysregulated gene expression in disease. (wikipedia.org)
  • genetic
  • Creased earlobes are sometimes associated with genetic disorders in children, including Beckwith-Wiedemann syndrome. (wikipedia.org)
  • Two lines of evidence argue that the boundaries of insulated neighborhoods are insulating: 1) the vast majority (~90-97%) of enhancer-gene interactions are contained within insulated neighborhoods and 2) genetic perturbation of CTCF/cohesin-bound insulated neighborhood anchors leads to local gene dysregulation due to novel interactions outside of the neighborhood. (wikipedia.org)
  • mammalian
  • Lastly, we provide an update on the more general role of imprinted genes as growth rheostats in mammalian development. (wiley.com)
  • Mammalian gene transcription is generally controlled by enhancers. (wikipedia.org)
  • transcript
  • H19 (H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding)) is an RNA Gene, and is affiliated with the non-coding RNA class. (genecards.org)
  • proteins
  • The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. (wikipedia.org)
  • Click on genes, proteins and metabolites below to link to respective articles. (wikipedia.org)
  • Transcription
  • For transcription to occur, RNA polymerase needs to have access to the promoter sequence of the gene or it cannot bind the DNA. (wikipedia.org)
  • As a result, these Sp1 binding sites are not expected to contribute much to the regulation of H19 gene transcription. (wikipedia.org)
  • The H19 gene sequence also contains binding sites for the C/EBP family of transcription factors. (wikipedia.org)
  • H19 gene transcription has also been shown to be activated by the presence of the E2F1 transcription factor. (wikipedia.org)
  • Certain histone modifying enzymes can add or remove functional groups to the histones, and these modifications influence the level of transcription of the genes wrapped around those histones and the level of DNA replication. (wikipedia.org)
  • recessive
  • Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners. (wikipedia.org)
  • Recessive gene frequency in the selected worldwide populations Earlobes are normally smooth, but occasionally exhibit creases. (wikipedia.org)
  • Enhancers
  • This property of enhancers makes it difficult to identify an enhancer's target gene(s). (wikipedia.org)
  • While the location of many insulated neighborhood structures are maintained across different cell types, the enhancer-gene interactions occurring within them are cell-type specific, consistent with the cell type-specific activity of enhancers. (wikipedia.org)
  • sequence
  • If the repressor is bound upstream of a gene, such as in an operator sequence, then it would be repressing the gene's expression. (wikipedia.org)
  • J:63702 Paulsen M, El-Maarri O, Engemann S, Strodicke M, Franck O, Davies K, Reinhardt R, Reik W, Walter J, Sequence conservation and variability of imprinting in the beckwith-wiedemann syndrome gene cluster in human and mouse. (jax.org)
  • The H19 gene contains 3 Sp1 binding sites, however these 3 sites are present in a part of the sequence that has shown no transcriptional activity in deletion assays. (wikipedia.org)
  • distal
  • Insulators, another type of DNA regulatory element, limit an enhancer's ability to target distal genes when the insulator is located between an enhancer and a potential target. (wikipedia.org)
  • 1999
  • Although early G 1 depends on cyclin D-dependent kinases, the late G 1 /S transition critically depends on cyclin E/CDK2 complexes, which phosphorylate retinoblastoma protein, allowing S-phase gene activation ( Sherr and Roberts, 1999 ). (jneurosci.org)