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At least 973 records · Page 54Linked to original sources
PubMed2001

Macro-evolution of the hairy enhancer in Drosophila species.

It has been suggested that many of the changes in the developmental program might be in the cis-acting promoters and enhancer regions. Here I study the macro-evolutionary changes of an enhancer region for the early developmental gene hairy in Drosophila melanogaster, D. simulans, D. pseudoobscura, D. willistoni, D. nebulosa, D. hydei, and D. virilis. The enhancer region is characterized by small, highly conserved blocks interspersed among highly variable regions. Nevertheless, species phylogenies constructed by the enhancer sequences agree with the widely accepted phylogeny of these species. The evolution of the variable regions is consistent with a molecular clock, while the evolution of the conserved blocks is significantly different from a clock. In particular, the D. pseudoobscura lineage shows the highest degree of species-specific change consistent with changes in expression timing reported in an earlier study. It has been suggested that the variation in sequence length between highly conserved blocks may play a role in the coordination of regulatory processes, such as protein-protein interactions; thus, stabilizing selection has been suggested to act on the length variations. Here I develop a test for stabilizing selection on length variation and show that the hairy enhancer does not show statistically significant evidence for stabilizing selection. J. Exp. Zool. (Mol. Dev. Evol.) 291:175-185, 2001.

Amino Acid Sequence↗
PubMed2004

Thomas Henry Huxley (1825-1895) puts us in our place.

Thomas Huxley was one of the 19th century's most active defenders of Darwin's idea that life has evolved through natural processes. An anatomist and paleontologist, he extended his energies to science and education policy, the democratization of science, and the broad societal implications of evolution. Since his time the fossil record has greatly improved and the genetic 'revolution' has occurred, deepening our understanding of primate and human evolution in ways that would please Huxley: improved systematics relies heavily on genetic data, and molecular technologies are opening our understanding of the genetic basis of complex traits of traditional anthropological interest-but in ways that are thoroughly dependent on the fact of evolution. A more unified biological synthesis is forming that unites genes, developmental process, structure, and inheritance. But the tempo and mode of evolution remain unresolved. Huxley was one of many who have had trouble accepting Darwin's gradual natural selection as the central evolutionary mechanism, and views spanning the antipodes of gradualism and saltation find advocates even in our genetic era.

Biological Evolution↗
PubMed2005

Stomodeal and neurohypophysial placodes in Ciona intestinalis: insights into the origin of the pituitary gland.

The ascidian larva has a central nervous system which shares basic characteristics with craniates, such as tripartite organisation and many developmental genes. One difference, at metamorphosis, is that this chordate-like nervous system regresses and the adult's neural complex, composed of the cerebral ganglion and associated neural gland, forms. It is known that neural complex differentiation involves two ectodermal structures, the neurohypophysial duct, derived from the embryonic neural tube, and the stomodeum, i.e. the rudiment of the oral siphon; nevertheless, their precise role remains to be clarified. We have shown that in Ciona intestinalis, the neural complex primordium is the neurohypophysial duct, which in the early larva is a short tube, blind anteriorly, with its lumen in continuity with that of the central nervous system, i.e. the sensory vesicle. The tube grows forwards and fuses with the posterior wall of the stomodeum, a dorsal ectodermal invagination of the larva. The duct then loses posterior communication with the sensory vesicle and begins to grow on the roof of the vesicle itself. The neurohypophysial duct differentiates into the neural gland rudiment; its dorsal wall begins to proliferate neuroblasts, which migrate and converge to build up the cerebral ganglion. The most anterior part of the neural gland organizes into the ciliated duct and funnel, whereas the most posterior part elongates and gives rise to the dorsal strand. The hypothesis that the neurohypophysial duct/stomodeum complex possesses cell populations homologous to the craniate olfactory and adenohypophysial placodes and hypothalamus is discussed.

Animals↗
PubMed1993

Sequential alterations in tRNA population of 2-acetylaminofluorene-induced hepatocyte nodules.

In order to investigate the possible mechanisms by which cellular alterations can start an altered onco-developmental gene expression, we studied tRNA distribution profiles during the early steps of 2-acetylaminofluorene-induced hepatocarcinogenesis. The finding of progressive and sequential alterations appears to support the hypothesis of a causal connection between tRNA changes and nodular cell proliferation, possibly through the disruption of the mechanism which regulates tRNA functional adaptation.

2-Acetylaminofluorene↗
PubMed1999

Proinsulin-like growth factor-II overexpression does not alter monoallelic H19 gene expression in transfected human embryonic kidney fibroblasts.

Insulin-like growth factor-II (IGF-II) is a potent mitogen for cells in culture. The H19 gene is a developmentally regulated gene with putative tumor suppressor activity, and loss of H19 expression may be involved in tumorigenesis. The H19 gene is closely linked to the human IGF-II gene (IGF2) on chromosome 11p15.5 and these genes are reciprocally imprinted in most fetal tissues. H19 is expressed only from the maternal and IGF2 from the paternal chromosome. We have asked whether overexpression of proIGF-II alters H19 imprinting status and/or expression. Human embryonal kidney fibroblasts (293 cells) were stably transfected with a PCMV5 vector containing the full length human IGF-II cDNA or a control cDNA. Transfectant clones expressed large quantities of IGF-II mRNA and secrete 1-5 ug/ml and 150-230 ng/ml proIGF-II within 24 hours of serum-free culture (transfectant 293-9 and -11 respectively) (1). Cells were genotyped at the exon 5, RsaI restriction fragment length polymorphism (RFLP) and found to be informative (+/-). H19 expression was monoallelic (+) indicating preservation of H19 imprinting in all cell lines. Using quantitative RT-PCR with internal competitors for H19 and for IGF-II cDNA, overexpression of IGF2 in 293-11 and 293-9 cells was confirmed. In contrast, no significant difference with respect to H19 expression was detected between the overexpressing cells and control lines. In conclusion, (1) human embryonal fibroblasts express the H19 gene. (2) H19 imprinting is preserved in these cells. (3) proIGF-II overexpression does not alter H19 expression.

Alleles↗
PubMed1994

Members of the HNF-3/forkhead family of transcription factors exhibit distinct cellular expression patterns in lung and regulate the surfactant protein B promoter.

The hepatocyte nuclear factor-3 (HNF-3)/forkhead (fkh) proteins consist of an extensive family of tissue-specific and developmental gene regulators which share homology within the winged helix DNA binding motif. We report on the isolation of a new family member, HNF-3/forkhead homolog 8 (HFH-8), from lung cDNA libraries and the derivation of the complete amino acid sequences for the HFH-8 protein as well as previously identified HFH-1 and HFH-4 proteins. The HFH proteins contain several sequence motifs found in activation domains of other transcription factors and HNF-3/fkh family members. In situ hybridization with the HNF-3, HFH-4, and HFH-8 probes in adult lung demonstrate that the HNF-3/fkh cellular expression patterns are regionally specified. Whereas HNF-3 alpha and HNF-3 beta are normally coexpressed in the hepatocyte, their expression patterns in the lung are different. The HNF-3 alpha and HFH-4 genes are coexpressed in the bronchiolar epithelium (clara cells), whereas the HNF-3 beta probe exhibits prominent hybridization with the smooth muscle surrounding arterioles and bronchioles. In contrast, HFH-8 probes labeled the type II pneumocyte cells lining the respiratory surfaces of terminal bronchioles and alveolar sac. We have identified an HNF-3 consensus DNA binding sequence in the proximal surfactant protein B (SPB) promoter region (SPB-f2, -78 to -88). SPB gene transcription is restricted to bronchiolar and alveolar epithelium which colocalizes with the expression pattern of the HNF-3 alpha and HFH-8 genes, respectively. We show that the SPB-f2 sequence is recognized by both HNF-3 alpha and HFH-8 proteins and that these cDNA expression vectors activate the SPB promoter in cotransfection assays through the HNF-3 consensus sequence. Our results suggest that SPB promoter activity is regulated by HNF-3 alpha and HFH-8 proteins in a cell type-specific manner.

Aging↗
PubMed2005

Epigenetic inheritance of chromatin states mediated by Polycomb and trithorax group proteins in Drosophila.

Proteins of the Polycomb group (PcG) and of the trithorax group (trxG) are involved in the regulation of key developmental genes, such as homeotic genes. PcG proteins maintain silent states of gene expression, while the trxG of genes counteracts silencing with a chromatin opening function. These factors form multimeric complexes that act on their target chromatin by regulating post-translational modifications of histones as well as ATP-dependent remodelling of nucleosome positions. In Drosophila, PcG and trxG complexes are recruited to specific DNA elements named as PcG and trxG response elements (PREs and TREs, respectively). Once recruited, these complexes seem to be able to establish silent or open chromatin states that can be inherited through multiple cell divisions even after decay of the primary silencing or activating signal. In recent years, many components of both groups of factors have been characterized, and the molecular mechanisms underlying their recruitment as well as their mechanism of action on their target genes have been partly elucidated. This chapter summarizes our current knowledge on these aspects and outlines crucial open questions in the field.

Animals↗
PubMed2002

Role of afferent activity in the development of cortical specification.

The surgical cross-modal rewiring paradigm is an experimental method for examining the physiological and anatomical consequences of exposing developing cortical subregions to specific types of patterned sensory inputs. Data from these experiments provide strong inferences about the role of extrinsic (subcortical) cortical inputs in shaping the local cortical networks that organize and process sensory information. Behavioral results from this work also suggest that such activity (and activity in general) is a profound organizer of cerebral connectivity. We discuss one future direction of these studies: the implication that extrinsic inputs regulate developmental genes that are responsible for refining the connectivity within local circuits, and a strategy to discover and characterize such genes.

Afferent Pathways↗
PubMed1996

Computer graphic three-dimensional reconstruction of normal human embryo morphogenesis.

Three-dimensional computer graphic reconstructions of four human embryos at Carnegie stages 11 to 23 portray the relationships and dimensions of individual organ systems. This paper illustrates the cranial, neural, pharyngeal, gut, vascular and nephric architecture in these developing embryos. This technology can be applied to in situ hybridization and immunohistochemistry to map zones and times of developmental gene activity.

Embryo, Mammalian↗
PubMedDate not supplied

Expression of developmentally relevant proteins by rodent embryo CNS cells in vivo and in vitro: proto-oncogene pp60c-src and high molecular weight neurofilament protein.

The expression of proteins that play a role in neuronal differentiation was examined in central nervous system (CNS) micromass embryo cell cultures and compared to expression at comparable developmental stages in vivo. The protein product of the src proto-oncogene (pp60c-src) has been postulated to have a specific role in development because, although it is expressed in many tissues, marked increases in amount and activity of pp60c-src occur in neurons at the time of differentiation. Another protein of interest, high molecular weight neurofilament (NF) protein, is found in differentiated neurons. In the present study, changes over time in the expression of these two proteins in vitro and in vivo were examined. In the micromass cell cultures, primary cells from day 12 rat embryo CNS are plated at high density and differentiate into neurons during five days in culture. Tissues from embryos grown in vivo were assessed at 12 and 17 days post-coitum. Proteins were quantified by PAGE separation of equal amounts of total protein followed by transfer to membranes, immunoblotting, and densitometric scanning of blots. Increases in the amount of both proteins with neuronal differentiation was shown. Protein kinase activity of immunoprecipitated pp60c-src also increased in cell cultures and in embryos. Similarity in patterns of expression between in vitro and in vivo tissue samples provides further evidence that the cultures closely simulate in vivo differentiation and are a useful system for examining expression of developmental genes in vitro.

Animals↗
PubMed1994

Dysmorphic disorders--an overview.

Clinical delineation of dysmorphic syndromes is important for patient management, family counselling and basic research. Productive areas of research in dysmorphology and developmental biology have included the study of the mouse homologies of human disease. Mutations have been identified in both species in highly conserved 'developmental' genes, and also because of phenotypic similarity of syndromes. Mosaicism--somatic, germline and placental--involving chromosomal aneuploidy, single gene mutations and functional differences between cell lines is an important cause of malformations and syndromes. Many recurrent pattern malformation syndromes of previously unknown cause have now been found to be due to chromosomal microdeletions. Diagnosis has been greatly aided by the molecular cytogenetic technique of fluorescent in situ hybridization.

Animals↗
PubMed1994

Aryl hydrocarbon or dioxin receptor: biologic and toxic responses.

1. The AhR represents a ligand-activated transcription factor. Receptor agonists include planar aromatic compounds, a variety of heterocyclic plant constituents, and PCDD/PCDF. The latter lead to persistent activation of the receptor due to their strong binding affinity and long biologic half-life of over 10 years in human blood and fat. Practically every person on earth is exposed to these compounds via the diet (> 90%) and by high concentrations in mother's milk. PCDD/PCDF produced toxic responses in exposed people (primarily chloracne and immunosuppression) in the past. However, the present PCDD/PCDF levels (basal levels) in the general population are below those warranting toxicologic concern. 2. The AhR has been characterized as a helix-loop-helix transcription factor related to the Drosophila developmental genes sim and per. The cytosolic form of the receptor is present as an inactive complex with two subunits of HSP90. After ligand binding HSP90 is released and the receptor enters the nucleus as a heterodimer together with a related protein ARNT. It binds with high affinity to certain enhancer elements in the upstream region of several genes such as cytochrome P4501A1 (CYP1A1). The AhR transcriptionally activates several drug-metabolizing enzymes and proteins involved in growth/differentiation, such as the plasminogen activator inhibitor PAI-2 and IL-1 beta. In addition, it modulates the action of a number of other nuclear transcription factors such as receptors of the steroid hormone receptor superfamily and of cell surface receptors such as EGF. With the exception of CYP1A1 induction, little is known about the mechanism of transcriptional activation of the AhR-controlled genes. Many AhR-modulated biologic responses (such as modulation of the estrogen and EGF receptor) appear to be indirect. 3. Persistent activation of the AhR is probably responsible for toxic responses in experimental animals and humans. They are markedly tissue and species specific. In rodents a wasting syndrome, immunosuppression, teratogenicity, chloracne, and carcinogenicity/tumor promotion have been well studied. There is good evidence for an involvement for the AhR in these responses. However, the chain of events from receptor activation to the diverse toxic endpoints is largely unknown. Alteration of growth and differentiation of epithelial tissues may underlie most of the toxic responses. A lot has already been achieved, mostly by characterizing the AhR and transcriptional activation of CYP1A1. Still more work lies ahead of us, for example, elucidation of the physiologic roles of the AhR and of the chains of events from receptor activation to the various biologic and toxic endpoints.

Animals↗
PubMed2005

A genetic perspective on myopia.

Myopia is a refractive error of the eye that has a significant socioeconomic impact due to its increasing prevalence and the fact that it causes visual impairment. Its aetiology is complex and is likely to involve the interaction of environmental and genetic influences. Tight environmental influence is exemplified by defocus-induced myopia produced in animal models, while genetic factors predominate in familial occurrence of myopia with a Mendelian inheritance pattern. The involvement of numerous mediators, such as cytokines, neurotransmitters and transcription factors, in myopia development has been indicated through various lines of investigation, particular interest focussing on scleral extracellular matrix proteins and developmental genes of the eye. As high-throughput technology for large-scale genotyping and RNA expression analysis enters the field of myopia research, a productive avenue will open up for deciphering the aetiological heterogeneity of myopia and the biological pathways underlying its development.

Animals↗
PubMed2000

Characterization of the alternate allelic forms of human PAX7.

Six different allelic forms of the human neurogenic and myogenic developmental gene, PAX7, have been identified. They are distinguished by the number of tandem tetranucleotide, GAAG, repeats at a polymorphic site within the second intron of the paired box. Within the same intron, a second polymorphic site was found to have variable numbers of a dinucleotide TG repeat. The alleles are identified by a PCR-based method with oligo primers that span the variable regions of the intron. Several of the alleles include a duplicate copy of the entire paired box. Segregation studies demonstrate that the PAX7 alleles are inherited in a Mendelian fashion and that the duplicate copies of the PAX7 paired box region present in some of the alleles are closely linked. This initial study identified differences in the distribution of PAX7 alleles in DNA from patients with the skeletal muscle myopathy, dermatomyositis. Recognition of genetic polymorphism of PAX7 allows new approaches to understanding the role of PAX7 in myogenesis, neurogenesis, and neuromuscular disorders.

Alleles↗
PubMed2005

Identification of expression profiles of sorghum genes in response to greenbug phloem-feeding using cDNA subtraction and microarray analysis.

The phloem-feeding by greenbug (Schizaphis graminum) elicits unique interactions with their host plants. To investigate the expression profiles of sorghum genes responsive to greenbug feeding, two subtractive cDNA libraries were constructed through different combinatorial subtractions in a strong greenbug resistance sorghum M627 line and a susceptible Tx7000 line with or without greenbug infestation. A total of 3,508 cDNAs were selected from the two cDNA libraries, and subsequent cDNA microarray and northern blot analyses were performed for identification of sorghum genes responsive to greenbugs. In total, 157 sorghum transcripts were identified to be differentially expressed by greenbug feeding. The greenbug responsive genes were isolated and classified into nine categories according to the functional roles in plant metabolic pathways, such as defense, signal transduction, cell wall fortification, oxidative burst/stress, photosynthesis, development, cell maintenance, abiotic stress, and unknown function. Overall, the profiles of sorghum genes, responsive to greenbug phloem-feeding shared common identities with other expression profiles known to be elicited by diverse stresses, including pathogenesis, abiotic stress, and wounding. In addition to well-known defense related regulators such as salicylic acid, jasmonic acid, and abscisic acid, auxin and gibberellic acid were also involved in mediation of the defense responses against greenbug phloem-feeding in sorghum.

Animals↗
PubMed2002

Experimental models of fetal obstructive nephropathy.

Urinary tract obstruction in the developing human fetus is an important cause of postnatal kidney failure and is the most common cause of end-stage renal disease and chronic renal failure in boys less than 4 years of age. Although the pathogenesis of renal dysplasia resulting from urinary tract obstruction is not well defined, it is clear that the earlier the obstruction occurs during in utero nephrogenesis the more severe the histopathological changes. Efforts to intervene in the human fetus have been hampered by an inaccuracy of diagnosis and by a lack of validation of in utero features predictive of poor outcome. A number of experimental models of obstructive renal dysplasia have been developed, which result in the consistent histopathological features of tubular cell apoptosis, mesenchymal expansion with mesenchymal myocyte transformation, and decreased glomerular endowment and glomerular injury. Defining the optimal timing of release of obstruction and restoring normal developmental gene and protein patterns should guide future intervention in these processes. Experimental animal models that closely simulate human development and disease will, thus, be essential for exploring these questions, and for assessing novel fetal therapies for future human application.

Animals↗
PubMed1990

Conservation of engrailed-like homeobox sequences during vertebrate evolution.

The Drosophila melanogaster developmental gene engrailed (en) is a member of a distinct subfamily of homeobox genes with a wide phylogenetic distribution. Here we report the use of reduced stringency polymerase chain reaction (PCR) to amplify and clone 8 genes related to en from 5 vertebrate species, including representatives of the most ancient vertebrate lineages. Nucleotide and deduced amino acid sequence comparisons between mouse, toad, zebrafish, lamprey and hagfish genes reveal extensive evolutionary conservation, and suggests that 2 en-like genes have been retained in most vertebrate lineages.

Amino Acid Sequence↗