• PHD: plant homeodomain fingers or LAP domains. (atlasgeneticsoncology.org)
  • The ms4 locus was fine mapped to a 216 kb region, which contains 23 protein-coding genes including Glyma.02G243200 , an ortholog of Arabidopsis MALE MEIOCYTE DEATH 1 ( MMD1 ), which is a Plant Homeodomain (PHD) protein involved in male fertility. (biomedcentral.com)
  • The plant homeodomain (PHD) finger is a C4HC3 zinc-finger-like motif found in nuclear proteins thought to be involved in epigenetics and chromatin-mediated transcriptional regulation. (embl-heidelberg.de)
  • The predicted protein sequence contained a highly conserved homeodomain and the WUS-box domain, which is present in some members of the WOX protein family. (gc.ca)
  • The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. (nih.gov)
  • The absence of genomic resources renders the search for paralogous cuttlefish genes dependent upon the presence of highly conserved protein motifs within genes of interest, thus we used a degenerate primer strategy to isolate partial coding sequence from the conserved domains specific to these families. (europa.eu)
  • Both predicted proteins are highly conserved with other known homologous sequences, with the exception of two small domains present only in the Sof-RXR. (europa.eu)
  • An orthology relationship of these genes with the highly conserved Otx5 genes identified in fish and amphibians, and also expressed in the eye and epiphysis, has been proposed previously but remains controversial. (ox.ac.uk)
  • Comparative analyses of its 38.5-megabase genome, which encodes 13,210 predicted genes, reveal the species's unique wood-degrading machinery. (nature.com)
  • Time-series analysis of whole-genome expression data during Drosophila melanogaster development indicates that up to 86% of its genes change their relative transcript level during embryogenesis. (nih.gov)
  • The homeobox transcription factor HOXC13 upregulates human papillomavirus E1 gene expression and contributes to viral genome maintenance. (nih.gov)
  • As a scientist she has been involved in mapping the human genome and identifying genes and mutations, which give rise to heritable disorders. (bepress.com)
  • Purpose: To determine the genetic basis of autosomal dominant cornea plana (CNA1) through the performance of a genome-wide linkage analysis and screening of the decorin (DCN), dermatan sulfate proteoglycan 3 (DSPG3), forkhead box C1 (FOXC1), keratocan (KERA), lumican (LUM,) and paired-like homeodomain transcription factor 2 (PITX2) genes in members of an affected multigenerational family. (llu.edu)
  • DNA was obtained from affected and unaffected subjects for the performance of a genome-wide linkage analysis as well as PCR amplification and sequencing of DCN, DSPG3, FOXC1, KERA, LUM, and PITX2. (llu.edu)
  • molecular studies are difficult due to the absence of genome sequence data for any cephalopod. (europa.eu)
  • Australian researchers performed a pilot study to test the value of whole genome sequencing (WGS) intended to aid in embryo selection in high-risk couples engaged in in vitro fertilization (IVF) treatment. (goldenhelix.com)
  • SVS was used to filter and prioritize candidate genes in their WES analysis, which was based on the Human Genome annotation, GRCh37/hg19. (goldenhelix.com)
  • engrailed (en) encodes the homeodomain-containing transcription factor protein Engrailed. (wikipedia.org)
  • RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
  • From a cDNA library of 3-day after-pollination (DAP) rice embryos we cloned a HAZ1 cDNA that encodes a protein with a PHD-finger domain and a homeodomain. (elsevierpure.com)
  • For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
  • We identified and cloned a mouse double homeobox gene (Duxbl), which encodes two homeodomains. (ntnu.edu.tw)
  • In addition, we use bioinformatic analysis across twelve Drosophila genomes to identify putative cis-regulatory sequences that may be capable of facilitating specific promoter-enhancer interactions at the bithorax complex and propose a model for their molecular function during development. (nih.gov)
  • [ 3 ] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)
  • By analyzing lethal mutations in the fruit fly Drosophila Hadorn accumulated evidence that genes control development to a large extent and that they determine the body plan in great detail. (balzan.org)
  • PCR and Sanger sequencing were used to confirm mutations in and screen other family members where they were available. (molvis.org)
  • To date, mutations in 93 genes have been shown to cause the condition ( RetNet ). (molvis.org)
  • The mutations of BRCA2 gene predispose the cells towards neoplastic development. (biomedcentral.com)
  • With no known attempts to investigate the heritable factors using next generation sequencing (NGS) and whole exome sequencing (WES), a research team from Mexico endeavored to better understand the genetic basis of the defect in a family with a recurrence of gastroschisis. (goldenhelix.com)
  • The molecular mass of the expressed protein was identical to that predicted by the cDNA sequence. (gc.ca)
  • Here, we have defined a set of genes that help to understand the molecular mechanisms controlling reproduction in eels. (biomedcentral.com)
  • Molecular characterization of the male sterility genes will be the key to establish a sterility system for commercial application in hybrid seed production. (biomedcentral.com)
  • This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. (nih.gov)
  • The UGT1 family constitutes a complex gene locus on human chromosome 2q37 and comprises 13 first exons that encode the unique N-terminal domains of the UGT1A proteins and exons 2 to 5 that encode the C-terminal domain, which is identical in all UGT1A family members ( Owens and Ritter, 1992 ). (aspetjournals.org)
  • The UGT2 family, in contrast, is encoded by separate genes clustered on chromosome 4q13 and consists of the UGT2A and UGT2B subfamilies. (aspetjournals.org)
  • In this chapter, we summarized the evidence to support the function of Hox genes in adult tissues, specifically in endothelial cell differentiation, by studying their mechanism of action and how their target genes regulate vasculogenesis and angiogenesis. (intechopen.com)
  • In contrast, the Fushi Tarazu homeodomain protein is an activator, both in cultured cells and in Drosophila embryos, where it activates several known target genes, including its own gene. (biologists.com)
  • Normal Fushi Tarazu target genes are affected as they are in fushi tarazu mutants. (biologists.com)
  • KDM5A-mediated histone H3 lysine 4 demethylation contributes to silencing of retinoblastoma target genes (Chicas et al. (atlasgeneticsoncology.org)
  • The Engrailed homeodomain protein is an 'active' or dominant transcriptional repressor in cultured cells. (biologists.com)
  • We find a relationship between repressor function and evolutionary age for the KRAB domains, discover that Homeodomain repressor strength is collinear with Hox genetic organization, and identify activities for several domains of unknown function. (stanford.edu)
  • Abdominal-B (Abd-B) is one of three homeotic genes in the BX-C and is expressed in specific presumptive abdominal segments in the embryo. (nih.gov)
  • Several other homeotic genes were then cloned by Gehring's and other groups. (balzan.org)
  • The ingenious scientist Walter Gehring then discovered (independently from Matthew Scott's group in the USA) that all homeotic genes have a 180 base pair sequence in common that he called the Homeobox. (balzan.org)
  • a beta-cell-specific transcriptional enhancer found in the insulin gene. (embl.de)
  • Here, we develop HT-recruit, a pooled assay where protein libraries are recruited to a reporter, and their transcriptional effects are measured by sequencing. (stanford.edu)
  • We have isolated a murine cDNA encoding a 9-kD protein, Chisel (Csl), in a screen for transcriptional targets of the cardiac homeodomain factor Nkx2-5. (ox.ac.uk)
  • In the model organism, Drosophila melanogaster, engrailed acts as a segment polarity gene in early embryonic development. (wikipedia.org)
  • At the Drosophila bithorax complex many distinct classes of cis-regulatory modules work collectively during development to control gene expression. (nih.gov)
  • On this basis, Homeobox-containing genes are called developmental control genes. (balzan.org)
  • Walter Gehring made a second discovery of fundamental importance in developmental biology as he identified the Pax6 gene (which contains a Homeobox as well), a "master control gene" for eye development in all animals, including humans. (balzan.org)
  • Moreover, the conservation of this genetic control of eye development throughout evolution was demonstrated by the fact that insect and mammalian genes are interchangeable. (balzan.org)
  • Seven novel sequence variants were described, including 5 single nucleotide substitutions, 1 insertion and 1 deletion. (llu.edu)
  • Building on studies previously done in different ethnic populations, researchers from France and Tunisia teamed up to investigate the role single nucleotide variations (SNV) in the ESR1 & ESR2 genes play in PCOS in a population of Tunisian women. (goldenhelix.com)
  • HOX genes belong to a family of transcription factors characterized by a 183 bp DNA sequence called homeobox, which code for a 61-amino-acid domain defined as the homeodomain. (intechopen.com)
  • Their binding properties depend on the amino acid sequence of the finger domains and of the linker between fingers, as well as on the higher-order structures and the number of fingers. (embl.de)
  • A database search showed that HAZ1 was most similar in its entire amino acid sequence to Zmhox1a (52% identity) and Zmhox1b (50%), PHD-finger family homeodomain proteins of maize. (elsevierpure.com)
  • The amino acid sequences of Duxbl homeodomains are most similar to those of human DUX4 protein, associated with facioscapulohumeral muscular dystrophy. (ntnu.edu.tw)
  • The reverse activity transcribes the ZAR2 mRNA with 966 nt coding sequence which codes for a 321 amino acid protein. (biomedcentral.com)
  • SATB1 can recruit chromatin-remodeling factors and thereby regulate chromatin structure and gene expression. (bdbiosciences.com)
  • This allows to conclude that Homeobox-containing genes are coding for transcription factors which regulate the activity of other genes. (balzan.org)
  • Studies on the mechanisms that regulate UGT genes, in a temporal and tissue-specific manner, should contribute significantly to understanding the basis for these differences. (aspetjournals.org)
  • The notion could be that unique cellular mechanisms are triggered in the breast cancer cells to stimulate BRCA2 gene expression as a temporary measure to regulate the growth of the breast cancer cells. (biomedcentral.com)
  • Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. (nih.gov)
  • Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)
  • These genes encode proteins that are required for the development and maintenance of photoreceptor structure and its matrix membranes, visual transduction, ciliary trafficking and photoreceptor outer segment shedding. (molvis.org)
  • These regulatory modules include promoters, insulators, silencers, enhancers, promoter targeting sequences and the recently identified promoter tethering element (PTE). (nih.gov)
  • He showed that the Homeodomain binds to specific DNA sequences of the promoter region of certain genes. (balzan.org)
  • While studying the activity of BRCA2 gene promoter in breast cancer cells, we discovered that this promoter has bi-directional activity and the product of the reverse activity (a ZAR1-like protein, we named ZAR2) silences the forward promoter at the G0/G1 phase of the cell. (biomedcentral.com)
  • Human BRCA2 gene promoter is active in both the forward and the reverse orientations. (biomedcentral.com)
  • BRCA2 gene promoter has bi-directional activity, expressing BRCA2 and a novel C4-type zinc finger containing transcription factor ZAR2. (biomedcentral.com)
  • Subcellular location of ZAR2 and its expression from the reverse promoter of the BRCA2 gene are stringently regulated in a cell cycle dependent manner. (biomedcentral.com)
  • ZAR2 binds to BRCA2/ZAR2 bi-directional promoter in vivo and is responsible, at least in part, for the silencing of BRCA2 gene expression in the G0/G1 phase in human breast cells. (biomedcentral.com)
  • One-third of the 471 genes predicted to encode transcription factors are differentially expressed during sexual development of S. commune . (nature.com)
  • Using a false discovery rate of 0.05, a total of 1,497 differentially expressed genes were identified. (biomedcentral.com)
  • By applying conservative filtering criteria and requiring 'sharp' transcript changes, we identified 1534 maternal genes, 792 transient zygotic genes, and 1053 genes whose transcript levels increase during embryogenesis. (nih.gov)
  • The WUSCHEL (WUS)-related homeobox (WOX) gene family coordinates transcription during the early phases of embryogenesis. (gc.ca)
  • The mammalian Crx genes are highly divergent representatives of the Otx5 gene family, a gnathostome orthology class of orthodenticle-related homeogenes involved in the differentiation of retinal photoreceptors and circadian entrainment. (ox.ac.uk)
  • Two transcript variants encoding different isoforms have been found for this gene. (nih.gov)
  • None of the identified sequence variants demonstrated complete segregation with the affected phenotype in the pedigree. (llu.edu)
  • Rhombotin 1 (RBTN1 or TTG-1) and rhombotin-2 (RBTN2 or TTG-2) are proteins of about 160 amino acids whose genes are disrupted by chromosomal translocations in T-cell leukemia. (embl.de)
  • There are many superfamilies of Znf motifs, varying in both sequence and structure. (embl.de)
  • The 14/SATB1 monoclonal antibody specifically binds to the special AT-rich sequence binding protein 1 that is encoded by the SATB1 (SATB homeobox 1) gene. (bdbiosciences.com)
  • Isl-1 binds to one of the two cis-acting protein-binding domains of the insulin gene. (embl.de)
  • The functional complementation of Arabidopsis mmd1 mutant with the soybean Ms4 gene produced normal stamens, successful tetrad formation, fertile pollens and viable seeds, whereas the Ms4_homolog was not able to restore male fertility. (biomedcentral.com)
  • Gene identity was determined initially based upon BLAST similarity and confirmed by phylogenetic analysis. (europa.eu)
  • Phylogenetic analyses of the coding sequences show that the mammalian Crx genes are orthologous to the Otx5-related genes isolated in other gnathostomes. (ox.ac.uk)
  • Phylogenetic analysis showed presence of a homolog protein (MS4_homolog) encoded by the Glyma.14G212300 gene. (biomedcentral.com)
  • It is the only mushroom-forming fungus for which genes have been inactivated by homologous recombination. (nature.com)
  • It acts as a "selector" gene, conferring a specific identity to defined areas of the body, and co-ordinating the expression of downstream genes. (wikipedia.org)
  • Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY, Kohwi-Shigematsu T. The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development. (bdbiosciences.com)
  • In 1995, Walter Gehring demonstrated the importance of Pax6 in an elegant experiment in which targeted ectopic expression of this gene in the fly generated eyes on legs, wings or antennae. (balzan.org)
  • In the first stage of weight problems induced by HFD, raised free of charge essential fatty acids will be the initial stimulus for adipocyte hypertrophy and MHCII-related gene upregulation, possibly via activation of JNK and STAT1, which Purpureaside C may further activate CIITA, a prime regulator of MHCII expression (103, 104). (exposed-skin-care.net)
  • Studies on rodent UGT genes have demonstrated that the transcription factors hepatocyte nuclear factor 1 (HNF1) and CAAT-enhancer binding protein are important positive regulators of UGT expression in the liver (Hansen et al. (aspetjournals.org)
  • TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
  • For this, we used microarrays to compare the gene expression profiles of sexually mature to immature males. (biomedcentral.com)
  • Interestingly, while genes involved in immune system function were down-regulated in the brains of mature males, changes in the expression levels of several receptors and channels were observed suggesting that some rewiring is occurring in the brain at sexual maturity. (biomedcentral.com)
  • Brain and pituitary gene expression changes that are associated with reproduction have been observed in several teleosts. (biomedcentral.com)
  • In C2C12 muscle cell line, Duxbl expression pattern is similar to differentiated marker gene, Myogenin, increased in expression from 2 days onward in differentiating medium. (ntnu.edu.tw)
  • Relative levels of gene expression throughout development were determined by quantitative polymerase chain reaction (PCR) analysis and in cases where sufficient specific gene sequence was acquired, ribonucleic acid (RNA) probes were generated to evaluate the spatial expression patterns during the period of organogenesis. (europa.eu)
  • Spatial expression analysis of both genes revealed that Sof-RXR is expressed ubiquitously in all cells of the embryo, including the chondrocytes, whereas Sof-ALDH was expressed only in a sub-set of epithelial cells and no expression at the level of chondrocytes was observed. (europa.eu)
  • BRCA2 gene expression is tightly regulated during the cell cycle in human breast cells. (biomedcentral.com)
  • The expression of BRCA2 gene is silenced at the G0/G1 phase of cell growth and is de-silenced at the S/G2 phase. (biomedcentral.com)
  • One potential mechanism of BRCA2 involvement in breast cancer progression may be through deregulation of the BRCA2 gene expression. (biomedcentral.com)
  • BRCA2 gene expression is stringently regulated during the cell cycle. (biomedcentral.com)
  • While BRCA2 expression is involved in cell cycle checkpoints and DNA repair, the mechanisms of cell cycle-dependent regulation of BRCA2 gene expression remains elusive. (biomedcentral.com)
  • Our results, along with those on Otx - and Hox -gene expression, demonstrate that the cephalopod condition is similar to that in mouse and fruit fly, with Otx being expressed in the anterior-most brain region (except for the vertical lobe) and a Pax2/5/8 expression domain separating the Otx -domain from a Hox -gene-expressing posterior brain region. (biomedcentral.com)
  • engrailed is a homeodomain transcription factor involved in many aspects of multicellular development. (wikipedia.org)
  • The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. (nih.gov)
  • With Eddy De Robertis, he was the first to demonstrate the evolutionary conservation of Homeobox-containing genes present in all metazoan Bilateria, where they play a key role in patterning the body plan. (balzan.org)
  • However, their evolutionary origin and orthological relationships with other otd-related genes remain unclear. (ox.ac.uk)
  • First known for its role in arthropod embryological development, working in consort with the Hox genes, engrailed has been found to be important in other areas of development. (wikipedia.org)
  • The transcription factor of the Pax6 gene is critical for the development of the eye in all organisms endowed with a visual system. (balzan.org)
  • For example, 34% of the transiently expressed genes fall into three groups, with increased transcript levels between 2.5-12, 11-20, and 15-20 h of development, respectively. (nih.gov)
  • These genes play a central role during embryonic development by controlling body organization, organogenesis, and stem cell differentiation. (intechopen.com)
  • Homeobox genes that encode transcription factors play important roles in development and differentiation of both plant and animal systems. (elsevierpure.com)
  • The product of this gene may play a role in the development of hair, nail, and filiform papilla. (nih.gov)
  • The large majority of the early embryologists thought that the genes played only a minor role in development, for example by determining eye color, and that development is rather controlled by tissue interactions. (balzan.org)
  • The set of up-regulated genes includes genes involved in neuroendocrine processes, cell-cell signaling, neurogenesis and development. (biomedcentral.com)
  • Previous studies have demonstrated that transcription factors such as Pax genes play important roles during their development. (biomedcentral.com)
  • During lymphocyte development, the genes encoding immunoglobulins and T cell receptors are assembled from Variable (V), Diversity (D), and Joining (J) gene segments. (lu.se)
  • Driver events in pediatric malignancies can occur through loss of function in tumor suppressor genes or gain of function in proto-oncogenes. (medscape.com)
  • In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
  • This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
  • Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
  • [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
  • Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
  • Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
  • Results in deregulation of HOXA genes through recruitment of the histone acetyltransferase CBP / p300 (Thiollier et al. (atlasgeneticsoncology.org)
  • Since endothelial cell differentiation is one of the main steps to initiate vasculogenesis and angiogenesis, we analyzed the role of several Hox genes in the regulation of these two processes. (intechopen.com)
  • It recognizes ATC sequences that consist of stretches of A's, T's, and C's on one DNA strand. (bdbiosciences.com)
  • The mammalian Crx genes are highly divergent orthodenticle (otd)-related homeogenes that play important roles in the differentiation of retinal photoreceptors and the circadian entrainment. (ox.ac.uk)
  • Duxbl gene, a tandem triplicate produces two major transcripts, Duxbl and Duxbl-s. (ntnu.edu.tw)
  • They also indicate that a duplication event has taken place in actinopterygians, after the splitting of the Cladistia, and that a relaxation of the structural constraints acting on the gene coding region has occurred early in the mammalian lineage. (ox.ac.uk)
  • Later on, with Kurt Wüthrich, he determined the three-dimensional structure of the protein domain (called Homeodomain) encoded by the Homeobox at atomic resolution. (balzan.org)
  • A derivative that lacks this domain, while it cannot repress the endogenous fushi tarazu gene, can still reduce the activity of the fushi tarazu autoregulatory enhancer, suggesting that it competes with endogenous Fushi Tarazu for binding sites in vivo. (biologists.com)
  • The KDM5A (JARID1A) sequence starting with exon 28 still contains the sequence encoding the C-terminal PHD domain. (atlasgeneticsoncology.org)
  • Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)
  • This gene belongs to the homeobox family of genes. (nih.gov)
  • Exome sequencing was performed in one affected family member. (molvis.org)
  • Although a controversial topic, the team intends to take advantage of recent advancements in next generation sequencing to assist with selecting embryos for implantation to prevent early life fatal genetic conditions which adversely affect the quality of life of the afflicted individuals and their families. (goldenhelix.com)
  • Activation of Typical T Cells in Adipose Tissues Compact disc4+ Purpureaside C T Cell Activation TCRs recognize the current presence of a particular antigen by binding to brief peptide sequences in the antigen that's shown on APCs. (exposed-skin-care.net)
  • These brief peptide sequences in the antigen are often presented over the cell surface area of APCs by using MHCII substances, which are necessary for activation of Compact disc4+ T cells (102). (exposed-skin-care.net)
  • Vertebrate insulin gene enhancer binding protein isl-1. (embl.de)
  • This auto-activation has been shown to depend on targeting to a fushi tarazu enhancer by the Fushi Tarazu homeodomain. (biologists.com)
  • We then extended these sequences in both directions using rapid-amplification of complementary deoxyribonucleic acid (c-DNA) ends (RACE) to obtain full length transcripts, all of which will be deposited in the public database GenBank. (europa.eu)
  • Identification and characterization of a stable male sterility gene will be highly beneficial for making hybrid seed production economically feasible. (biomedcentral.com)
  • Characterization of male sterility genes may facilitate the establishment of a stable male sterility system, highly desired for the viability of hybrid seed production in soybean. (biomedcentral.com)