Search results for "Vertebra"
showing 10 items of 1220 documents
Usher syndrome: molecular links of pathogenesis, proteins and pathways.
2006
Contains fulltext : 50437.pdf (Publisher’s version ) (Closed access) Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically and genetically heterogeneous, and to date, eight causative genes have been identified. The proteins encoded by these genes are part of a dynamic protein complex that is present in hair cells of the inner ear and in photoreceptor cells of the retina. The localization of the Usher proteins and the phenotype in animal models indicate that the Usher protein complex is essential in the morphogenesis of the stereocilia bundle in hair cells and in the calycal processes of photoreceptor cells. In addition, the Usher proteins are important in…
The new era of genome sequencing using high-throughput sequencing technology: generation of the first version of the Atlantic cod genome
2016
Abstract The genome of Atlantic cod (Gadus morhua L.) published in 2011 was the first example of a teleost genome obtained using a pure high-throughput sequencing (HTS) technology strategy, and the first large vertebrate genome generated by exclusively using Roche/454 sequencing technology. At the start of the sequencing project in 2009, two HTS technologies were available, the Roche/454 and Illumina technologies. Because of the longer read length of the Roche/454 technology and a wider range of suitable software utilizing those data at the time, we chose to use this technology for the first version of the Atlantic cod genome. In this chapter, we describe the process leading to the assembly…
A variable intron distribution in globin genes of Chironomus: evidence for recent intron gain
1998
The intron positions found in globin genes of plants, protozoa and invertebrates have been interpreted as evidence for a three-intron-four-exon structure of the ancestral globin gene. In particular, the so-called 'central' introns, which are not found in vertebrate globin genes but are present in a variety of invertebrate and plant species, have been used as an argument for an ancestral gene structure featuring three introns. We have analyzed the presence or absence of central introns in the Gb genes 2beta, 9 and 7A of various European and Australasian species of the insect Chironomus. We find unrelated central introns at different positions in some of the species investigated, while other …
Sex chromosomes in vertebrates: XX/XY against ZZ/ZW.
2011
It was noted only recently that the mammalian X/Y sex chromosome system originated late in our therian ancestors. The question is, what makes the X/Y sex chromosome system so special that it has replaced the original Z/W sex chromosome system? Two classes of genes are overrepresented on the X chromosome: sex and reproduction genes and brain-related genes. The X chromosome has acquired bursts of young male-biased genes engaged in sex and reproduction which exemplifies the dynamics of sex chromosome evolution. Brain genes are old genes and display the most conserved transcriptome. The new therian X chromosome was formed by fusion of chromosome building blocks already bearing the highest densi…
Conserved synteny of mammalian imprinted genes in chicken, frog, and fish genomes
2006
Conservation of synteny of mammalian imprinted genes between chicken and human suggested that highly conserved gene clusters were selected long before these genes were recruited for genomic imprinting in mammals. Here we have applied in silico mapping of orthologous genes in pipid frog, zebrafish, spotted green and Japanese pufferfish to show considerable conservation of synteny in lower vertebrates. More than 400 million years ago in a common ancestor of teleost fish and tetrapods, ‘preimprinted’ chromosome regions homologous to human 6q25, 7q21, 7q32, 11p15, and 15q11→q12 already contained most present-day mammalian imprinted genes. Interestingly, some imprinted gene orthologues which are…
Chromosomal nucleolar organizer region (NOR) phenotypes in nine species of the genus Ophryotrocha (Polychaeta: Dorvilleidae)
1995
Chromosomal nucleolar organizer region (NOR) phenotypes have been characterized in nine species of the genus Ophryotrocha (Polychaeta: Dorvilleidae), namely O. notoglandulata, O. sp. macrovifera, O. sp. labronica pacifica, O. labronica labronica, O. puerilis puerilis, O. diadema, O. sp. robusta, O. gracills and O. hartmanni. Irrespective of chromosome number and morphology, Ag positive regions were terminally located in all but one species, O. diadema, where the NORs were pericentromerical in a metacentric pair. The presence of a single chromosome pair bearing NOR in invertebrates is considered an ancestral trait. According to this assumption, O. sp. robusta, O. dialema, and perhaps O. p. p…
The serine/threonine kinase 33 is present and expressed in palaeognath birds but has become a unitary pseudogene in neognaths about 100 million years…
2015
Background Serine/threonine kinase 33 (STK33) has been shown to be conserved across all major vertebrate classes including reptiles, mammals, amphibians and fish, suggesting its importance within vertebrates. It has been shown to phosphorylate vimentin and might play a role in spermatogenesis and organ ontogenesis. In this study we analyzed the genomic locus and expression of stk33 in the class Aves, using a combination of large scale next generation sequencing data analysis and traditional PCR. Results Within the subclass Palaeognathae we analyzed the white-throated tinamou (Tinamus guttatus), the African ostrich (Struthio camelus) and the emu (Dromaius novaehollandiae). For the African os…
Taste, movement, and death: varying effects of new prospero mutants during Drosophila development
2003
0022-3034 (Print) Comparative Study Journal Article Research Support, Non-U.S. Gov't; The PGal4 transposon inserted upstream of the pan-neural gene prospero (pros) causes several neural and behavioral defects in the Voila(1) strain. The precise excision of the transposon simultaneously rescued all these defects whereas its unprecise excision created new pros(V) alleles, including the null allele pros(V17). Here, we describe the relationship between the genetic structure of pros locus, larval locomotion, and larval gustatory response. These two behaviors showed varying degrees of variation depending upon the pros allele. We also found a good relation between behavioral alteration, the level …
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype
2015
The unconventional myosin VI, a member of the actin-based motor protein family of myosins, is expressed in the retina. Its deletion was previously shown to reduce amplitudes of the a- and b-waves of the electroretinogram. Analyzing wild-type and myosin VI-deficient Snell’s Waltzer mice in more detail, the expression pattern of myosin VI in retinal pigment epithelium, outer limiting membrane, and outer plexiform layer could be linked with differential progressing ocular deficits. These encompassed reduced a-waves and b-waves and disturbed oscillatory potentials in the electroretinogram, photoreceptor cell death, retinal microglia infiltration, and formation of basal laminar deposits. A pheno…
Ecological risks of an old wood impregnation mill: application of the triad approach.
2010
Although many studies deal with the distribution and mobility of chromated copper arsenate (CCA) metals in soil, the ecotoxicity of CCA-contaminated soils is rarely studied. The Triad approach was applied to determine the ecological risks posed by a CCA mixture at a decommissioned wood impregnation mill in southern Finland. A combination of (1) chemical analyses; (2) toxicity tests with plants (aquatic: Lemna minor; terrestrial: Lactuca sativa), earthworms (Lumbricus rubellus), and enchytraeids (Enchytraeus albidus) conducted on contaminated soils, their aqueous extracts, and well water collected from the site; and (3) determination of the abundance of enchytraeids and nematodes and the bio…