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  • Drosophila
  • In this annual report from the Laboratory of Biochemical Genetics, work on the Cell Recognition and Synapse Formation project is explained and major findings with mouse and Drosophila homeobox research are provided. (nih.gov)
  • Drosophila genomic DNA corresponding to 20 genes identified in enhancer trap experiments, which for the most part are expressed specifically in the nervous system, were cloned. (nih.gov)
  • embryos
  • Hox 1.11 poly A+ RNA is expressed in 12 to 14 day-old mouse embryos in the hind brain up to, but not including, the pons. (nih.gov)
  • encode
  • cDNA clones were obtained that encode 3 kinds of DNA binding proteins, each specific for a different novel mouse enhancer sequence were cloned. (nih.gov)
  • novel
  • A nuclear protein was found that binds to a novel trinucleotide repeat sequence in the 5'-upstream region of a rat brain voltage-sensitive calcium channel a1 subunit that activates an enhancerless chloramphenicol acetyltransferase reporter gene. (nih.gov)
  • mutations
  • Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2 5. (ozgene.com)
  • As in the mouse, the phenotype of human NKX2-5 mutations may be modulated by interacting alleles. (ozgene.com)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors. (uniprot.org)
  • Taken together with hair follicle abnormalities in humans with Tricho-Dento-Osseous (TDO) syndrome, an autosomal dominant ectodermal dysplasia linked to mutations in the DLX3 gene, our results establish that Dlx3 is essential for hair morphogenesis, differentiation and cycling programs. (biologists.org)
  • Mouse dmbo , mouse mpe and the known human Hmx1 allele causing OAS are all coding mutations that affect the Hmx1 DNA-binding homeodomain, and thus are predicted to result in loss of function. (biologists.org)
  • proteins
  • Studies indicate that LIM homeobox proteins Lhx6 and -8 mRNAs are primarily expressed in the ventral telencephalon, specifically in the medial ganglionic eminence (MGE) of the basal forebrain and in subsets of neurons in the striatum. (nih.gov)
  • Accumulating evidence has suggested that homeodomain-containing proteins play critical roles in regulating the tissue-specific gene expression essential for tissue differentiation and in determining the temporal and spatial patterns of development. (ahajournals.org)
  • cDNA clones were obtained that encode 3 kinds of DNA binding proteins, each specific for a different novel mouse enhancer sequence were cloned. (nih.gov)
  • Homeobox and Pou-domain proteins bind to DNA and regulate gene expression. (nih.gov)
  • mammalian genomes
  • To investigate the evolutionary dynamics of the complete homeobox gene superclass in mammalian genomes, we chose to focus on two species whose genomes have been sequenced to high coverage, accurately assembled and reasonably well annotated: human and mouse. (biomedcentral.com)
  • In mammalian genomes, HOX genes are encoded from 4 clusters and are expressed in a temporal manner during development. (qiagen.com)
  • phenotype
  • p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene. (uniprot.org)
  • 6 7 In addition, ectopic overexpression of mammalian Hox genes in Drosophila mimics in part the effect of the overexpression of the Drosophila homologous genes, 8 9 and disruption of Hox genes shows the phenotype similar to the loss-of-function mutants of corresponding Drosophila HOM-C genes. (ahajournals.org)
  • metazoan
  • After many years of confusion and debate, a robust evolutionary classification of metazoan homeobox genes has been established. (biomedcentral.com)
  • 1 2 Homeobox genes exist in a wide variety of metazoan genomes and encode sequence-specific DNA binding transcription factors that play fundamental roles in the temporal and spatial pattern formation or in the commitment of cells to specific developmental pathways. (ahajournals.org)
  • regulate
  • Multiple enhancers regulate Hoxd genes and the Hotdog LncRNA during cecum budding. (semanticscholar.org)
  • Title: Hoxc10 and Hoxd10 regulate mouse columnar, divisional and motor pool identity of lumbar motoneurons. (nih.gov)
  • Dlx homeobox transcription factors regulate epidermal, neural and osteogenic cellular differentiation. (biologists.org)
  • sequence
  • The homeobox domain presumably directs sequence-specific DNA binding. (uniprot.org)
  • A homeobox is a 180-bp conserved sequence motif that encodes a helix-turn-helix DNA binding domain called the homeodomain. (ahajournals.org)
  • A nuclear protein was found that binds to a novel trinucleotide repeat sequence in the 5'-upstream region of a rat brain voltage-sensitive calcium channel a1 subunit that activates an enhancerless chloramphenicol acetyltransferase reporter gene. (nih.gov)
  • clusters
  • The best known homeobox genes are Hox genes, usually arranged into gene clusters and known to play pivotal roles in specification of cell identity along the developing anteroposterior body axis in the embryos of bilaterian animals. (biomedcentral.com)
  • Diversification of Hox Gene Clusters in Osteoglossomorph Fish in Comparison to Other Teleosts and the Spotted Gar Outgroup. (nih.gov)
  • cDNA
  • No introns were detected in the coding regions of the 4 Pou-domain genes which suggests that the genes originated by reverse transcription of an ancestral species of Pou-domain mRNA followed by insertion of cDNA molecules into germ cell DNA. (nih.gov)
  • cDNA cloning and gene organization. (mpg.de)
  • characterization
  • Establishment and characterization of conditionally immortalized cells from the mouse urogenital ridge. (semanticscholar.org)
  • p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene. (uniprot.org)
  • patterns
  • 12 13 Many non- Hox class homeobox genes have been identified to date, and some of them, eg, Pit-1 , 14 TTF-1 (also called Nkx-2.1) , 15 16 or Gtx , 17 show restricted expression patterns in specific tissues or cell types, suggesting their role in the differentiation of the tissues. (ahajournals.org)
  • Transcriptional
  • Transcriptional induction of the mouse metallothionein-I gene in hydrogen peroxide-treated Hepa cells involves a composite major late transcription factor/antioxidant response element and metal response promoter elements. (nih.gov)
  • Homeobox genes are a large and diverse group of genes, many of which play important roles in transcriptional regulation during embryonic development. (biomedcentral.com)
  • The most striking defects in the conditional knockout mice were complete alopecia owing to a failure in hf development, concomitant with lack of expression of transcriptional regulators necessary for the differentiation of the IRS and hair shaft, and inability to undergo cyclic regeneration postnatally. (biologists.org)
  • ENCODE
  • Description: RNA profiling data sets generated by the Mouse ENCODE project. (nih.gov)
  • mutation
  • Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. (nih.gov)
  • The mouse dumbo ( dmbo ) mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. (biologists.org)
  • A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. (biologists.org)
  • roles
  • Many other homeobox genes also have key roles in animal development, with homeobox genes implicated in development of the brain, central nervous system, skeleton, muscle, neural crest-derived tissues, appendages, heart, liver and other structures. (biomedcentral.com)
  • It remains to be seen whether Dll and the Dlx genes have similar roles during the development of these organs. (biologists.org)
  • Lineage
  • Thus, Hex expression marks the earliest unequivocal molecular anteroposterior asymmetry in the mouse embryo and indicates that the anteroposterior axis of the embryo develops from conversion of a proximodistal asymmetry established in the primitive endoderm lineage. (biologists.org)
  • DNA methylation regulates long-range gene silencing of an X-linked homeobox gene cluster in a lineage-specific manner. (nih.gov)
  • We find there has been much more homeobox gene loss in the rodent evolutionary lineage than in the primate lineage. (biomedcentral.com)
  • Differentiation
  • For example, the MyoD gene family of skeletal muscle-specific transcription factors plays a critical role in skeletal muscle differentiation. (ahajournals.org)
  • Homeodomains are also found in genes other than the HOX family, including transcription factors involved in developmental processes such as pluripotency and differentiation. (qiagen.com)
  • adult
  • Amplification of each isoform by reverse transcriptase-polymerase chain reaction revealed that all of the three isoforms are expressed in fetal and adult hearts and that the homeobox-containing isoform CSX1a is most abundant. (ahajournals.org)
  • Four Pou-domain genes expressed in embryonic and adult mouse brain were cloned and sequenced: Brain-1, Brain-2, Brain-4, and Scip. (nih.gov)