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Item Metadata only Increased and decreased sensitivity to carbon catabolite repression of enzymes of acetate metabolism in mutants of Aspergillus nidulans(Springer-Verlag, 1977) Kelly, J.M.; Hynes, M.J.The creA204, creB15 and creC27 mutations have been shown to cause carbon catabolite derepression of acetyl CoA synthase and isocitrate lyase in Aspergillus nidulans. A recessive mutation, cre-34, which is linked to the creC gene, results in these enzymes being more sensitive than cre or wildtype strains to catabolite repression. The acetamidase levels of strains containing cre mutations have been investigated and provide support for the hypothesis that an acetate metabolite, rather than acetamide, induces this enzyme.Item Metadata only Pleiotropic mutants of Aspergillus nidulans altered in carbon metabolism(Springer-Verlag, 1977) Hynes, M.J.; Kelly, J.M.Mutants altered in carbon catabolite regulation have been isolated by selecting for mutants of theareA217 strain capable of using acetamide as the sole nitrogen source in the presence of sucrose. In addition tocreA mutants described previously by Arst and Cove, strains with mutations in two new genes,creB andcreC, have been found. ThecreB andcreC mutants grow poorly on some sole carbon sources and have low levels of some enzymes of carbon catabolism e.g. β-galactosidase and D-quinate dehydrogenase. ThecreB andcreC mutants are hypersitive to fluoroacetate, fluoroacetamide and allyl alcohol in the presence of glucose or sucrose but not glycerol; and the enzymes, acetamidase, and alcohol dehydrogenase, are less sensitive to carbon catabolite repression than the wild-type strain. Extracellular protease and α-glucosidase enzyme activities are elevated increB andcreC mutants, while L-proline and L-glutamate uptake capacities are lower in both the presence and absence of glucose. Interactions betweencreA, B and C mutations have been investigated in double mutants, and the dominance properties ofcreB andcreC mutants determined. The results indicate that thecreB andcreC genes may have a regulatory role in the control of carbon catabolism.Item Metadata only The regulation of NADP-linked isocitrate dehydrogenase in Aspergillus nidulans(Society for General Microbiology, 1982) Kelly, J.M.; Hynes, M.J.The regulation of NADP-linked isocitrate dehydrogenase (NADP-IDH) has been studied in wild-type and mutant strains of Aspergillus nidulans. In the wild-type strain studied, the levels of NADP-IDH vary in a similar way to those of acetamidase, acetyl-CoA synthase, isocitrate lyase and malate synthase under all growth conditions used. Similarly,foc mutants, which are altered in the regulation of these enzymes of acetate utilization, are affected in NADP-IDH levels in a parallel fashion, as are cre mutants, which show altered carbon catabolite repression of this group of enzymes. Possible functions of the NADP-IDH enzyme are considered.Item Metadata only Multiple copies of the amdS gene of Aspergillus nidulans cause titration of trans-acting regulatory proteins(Springer-Verlag, 1987) Kelly, J.M.; Hynes, M.J.It has been established that a plasmid containing the amdS gene of Aspergillus nidulans may be used to transform amdS+ strains by selecting for increased utilization of acetamide as sole nitrogen source. Analysis of transformants has shown that multiple tandem copies of the plasmid can be integrated into the chromosome, commonly at sites other than the amdS locus. While the transformed phenotype was relatively stable through mitotic and meiotic divisions evidence was found for variation in plasmid copy number presumably due to unequal recombination events. Expression of the integrated amdS genes was related to copy number, and the amdS RNA produced was similar in size to wild-type RNA. Evidence for titration of the product of the regulatory gene amdR by multiple copies of amdS was found. No titration of the product of the areA gene was observed, and amdS expression was still dependent on areA function. Multiple copies of the amdI9 mutation resulted in poor growth on acetate. This was not observed in the case of the amdS+ gene. The cis-acting amdI9 mutation causes increased facB dependent acetate induction of amdS expression. Titration of the facB gene produce by amdI9 DNA, but not by amdS+ DNA, therefore suggested that the mutation results in increased affinity for the facB gene product.Item Metadata only Differences in the regulation of aldehyde dehydrogenase genes in Aspergillus niger and Aspergillus nidulans(Springer-Verlag, 1988) O'Connell, M.J.; Kelly, J.M.In order to study mechanisms of gene regulation in A. niger, and to compare these to similar systems in A. nidulans, a gene encoding an aldehyde dehydrogenase enzyme has been cloned. In wild-type strains of A. niger the gene shows expression which is regulated by induction and repression. Levels of induction by various compounds and the extent of repression under various growth conditions differs from that seen for the A. nidulans aldA gene. Unlike the A. nidulans aldA gene, the A. niger gene has both carbon catabolite repressible and nonrepressible induction mechanisms. Studies of heterologous expression of the A. niger gene in A. nidulans have shown that its expression is regulated by the alcR gene product of A. nidulans.Item Metadata only Control of gene expression in the temperate coliphage 186. X. The cl repressor directly represses transcription of the late control gene B(Wiley, 1992) Dibbens, J.A.; Gregory, S.L.; Egan, J.B.We have found that the repressor of 186 lytic transcription, CI, represses transcription of the late control gene B, with no involvement of the B protein Itself. In clone studies we showed that CI repressed transcription from the B promoter and that temperature inactivation of CIts led to B derepression. We conclude that CI repressor directly represses transcription of the Bgene and, with prophage induction, it is probable that the inactivation of the CI repressor not only derepresses early lytic transcription, but also derepresses B gene transcription, leading to the activation of transcription from the late promoters.Item Metadata only Distinct modes of cyclin E/Cdc2c kinase regulation and S-phase control in mitotic and endoreduplicating cycles of Drosophila embryogenesis(Cold Spring Harbor Laboratory Press, 1995) Sauer, Karsten; Knoblich, Jurgen A.; Richardson, Helena Elizabeth; Lehner, Christian F.Drosophila cyclin E (DmcycE) is required in embryos for S phase of mitotic and endoreduplication cycles. Here, we describe regulatory differences characteristic for these two cell cycle types. While DmcycE transcript levels decline in DmcycE mutant cells programmed for mitotic proliferation, they are maintained and no longer restricted to transient pulses in DmcycE mutant cells programmed for endoreduplication. Moreover, DmcycE expression in endoreduplicating cells is down-regulated by ectopic expression of a heat-inducible cyclin E transgene. DmcycE expression in endoreduplicating tissues, therefore, is restricted by a negative feedback to the transient pulse triggering entry into S-phase. Conversely, during mitotic cycles, where S phase entry is not only dependent on cyclin E but also on progression through M phase, cyclin E and associated Dmcdc2c kinase activity are present throughout the cell cycle. Reinitiation of DNA replication during the G2 phase of the mitotic cell cycle, therefore, is prevented by cyclin E/Dmcdc2c kinase-independent regulation. Observations in cyclin A mutants implicate G2 cyclins in this regulation. Our results suggest molecular explanations for the different rules governing S phase during mitotic and endoreduplication cycles.Item Metadata only The Rh/S-glycoprotein family of ribonuclease genes are found in animal and animal viral genomes(Elsevier, 1995) Hime, G.; Saint, R.Item Metadata only Captive breeding and maintenance of the fat-tailed dunnart(ANZCCART, 1995) Chesson, C.; Hope, R.Item Metadata only Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boys(The University of Chicago Press, 1995) Gedeon, A.; Keinanen, M.; Ades, L.; Kaarianen, H.; Gecz, J.; Baker, E.; Sutherland, G.; Mulley, J.Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against Pstl restriction digests of DNA. Deletions were detected initially by the control probe pS8, which is an anonymous fragment subcloned from YAC 539, within 1 Mb distal to FRAXA. Further molecular analyses determined that the maximum size of the deletion is <100 kb in one boy (MK) and is wholly overlapped by the deletion of up to -200 kb in the other (CB). These deletions lie between the sequences detected by the probe VK21C (DXS296) and a dinucleotide repeat VK18AC (DXS295). The patient MK had only speech delay with otherwise normal development, while patient CB had global developmental delay that included speech delay. Detection of overlapping deletions in these two cases led to speculation that coding sequences of a gene(s) important in language development may be affected. Hybridization of the pS8 and VK21A probes to zooblots revealed cross-species homology. This conservation during evolution suggested that this region contains sequences with functional significance in normal development. The VK21A probe detected a 9.5-kb transcript in placenta and brain and a smaller, 2.5-kb, transcript in other tissues analyzed.Item Metadata only The chromosomal location and phylogeny of a highly repeated sequence in the B chromosome of Brachycome dichromosomatica(Springer, 1995) Leach, C.; Donald, T.; Franks, T.; Spiniello, S.; Timmis, J.Item Open Access Ectopic cyclin E expression induces premature entry into S phase and disrupts pattern formation in the Drosophila eye imaginal disc(Company of Biologists, 1995) Richardson, H.; O'Keefe, L.; Marty, T.; Saint, R.During animal development, cell proliferation is controlled in many cases by regulation of the G1 to S phase transition. Studies of mammalian tissue culture cells have shown that the G1-specific cyclin, cyclin E, can be rate limiting for progression from G1 to S phase. During Drosophila development, down-regulation of cyclin E is required for G1 arrest in terminally differentiating embryonic epidermal cells. Whether cyclin E expression limits progression into S phase in proliferating, as opposed to differentiating, cells during development has not been investigated. Here we show that Drosophila cyclin E (DmcycE) protein is absent in G1 phase cells but appears at the onset of S phase in proliferating cells of the larval optic lobe and eye imaginal disc. We have examined cells in the eye imaginal epithelium, where a clearly defined developmentally regulated G1 to S phase transition occurs. Ectopic expression of DmcycE induces premature entry of most of these G1 cells into S phase. Thus in these cells, control of DmcycE expression is required for regulated entry into S phase. Significantly, a band of eye imaginal disc cells in G1 phase was not induced to enter S phase by ectopic expression of DmcycE. This provides evidence for additional regulatory mechanisms that operate during G1 phase to limit cell proliferation during development. These results demonstrate that the role of cyclin E in regulating progression into S phase in mammalian tissue culture cells applies to some, but not all, cells during Drosophila development. Ectopic expression of DmcycE in the eye imaginal disc disrupts normal pattern formation, highlighting the importance of coordinating cell proliferation with developmental processes for correct patterning in the developing eye. These studies establish DmcycE as a target of regulatory mechanisms that coordinate cell proliferation with other developmental events.Item Metadata only Ribosomal RNA genes and the B chromosome of Brachycome dichromosomatica(Oliver & Boyd, 1995) Donald, T.; Leach, C.; Clough, A.; Timmis, J.Fluorescence in situ hybridization (FISH) with biotinylated rDNA revealed the presence of an rRNA gene cluster on both the A and B chromosomes of Brachycome dichromosomatica, an Australian native ephemeral plant of the arid regions of south-eastern Australia. This species contains only two pairs of A chromosomes and up to three B chromosomes. The regular attachment of the B chromosome to a nucleolus suggests that these ribosomal RNA genes are transcribed. Southern hybridization of DNA from 0B and +B plants digested with a variety of restriction enzymes indicates that the rRNA genes on the A and B chromosomes are the same in sequence and methylation status.Item Metadata only FRAXE and mental retardation(British Medical Association, 1995) Mulley, J.; Yu, S.; Loesch, D.; Hay, D.; Donnelly, A.; Gedeon, A.; Carbonell, P.; Lopez, I.; Glover, G.; Garbarron, I.; Yu, P.; Baker, E.; Haan, E.; Hockey, A.; Knight, S.; Daview, K.; Richards, R.; Sutherland, G.Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was found within one of these kindreds. Cytogenetic expression of FRAXE was shown to skip a generation when associated with a reduction in size of the CCG expansion when transmitted through a male; however, in general, transmission occurred through females and a copy number increased from one generation to the next. In these respects the behaviour of FRAXE paralleled that of FRAXA. A relationship between FRAXE and non-specific mental impairment is strongly suggested by the occurrence in these families of more mentally impaired male and female carriers, after removal of index cases, than could reasonably be expected by chance.Item Metadata only X-Y chromosome dissociation in mice and rats exposed to increased testicular or environmental temperatures(CSIRO, 1995) Van Zelst, S.; Zupp, J.; Hayman, D.; Setchell, B.Heating the testes, scrota and tails of mice and rats by immersion in a water bath at 42 degrees C for 20 min caused an increased percentage of X-Y univalents in meiotic preparations made after 6 and 12 days respectively. It was also confirmed that exposing mice of a cool-adapted strain to an environment at 33 degrees C for 5 days resulted in an increase in the percentage of X-Y and autosomal univalents in meiotic preparations made after a recovery period of 2 days. Mice of a strain adapted to living at 33 degrees C also showed a higher rate of X-Y dissociation than control cool-adapted mice, but a lower frequency of autosomal univalents than cool-adapted mice exposed to the hot environment. The testes of the heat-adapted mice were even more sensitive than the testes of cool-adapted mice to the effects of local heating, as judged by the fall in testis weight 21 days afterwards.Item Metadata only A hypervariable middle repetitive DNA sequence from citrus(Springer-Verlag, 1995) Orford, S.; Scott, N.; Timmis, J.The use of hypervariable sequences for DNA typing of plants is focussed on microsatellites and on amplification of regions defined by random (RAPD) or defined (AFLP) primers for PCR analysis of genomes. A hypervariable length of middle repetitive DNA has been isolated from citrus that contains no obvious hypervariable structures. The fingerprinting probe was shown to have an important commercial application in the separation of zygotic from nucellar progeny. A somatic variant of the sequence within one orange tree suggests that somatic variation in hypervariable markers may be a common event.Item Metadata only X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome(British Medical Association, 1995) Gedeon, A.; Wilson, M.; Colley, A.; Sillence, D.; Mulley, J.A number of families with X linked dilated cardiomyopathy with onset in infancy or childhood have now been described, with varying clinical and biochemical features. Of these, one condition, Barth syndrome (BTHS), can be diagnosed clinically by the characteristic associated features of skeletal myopathy, short stature, and neutropenia, but not all of these features are always present. Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21. We report a large family in which male infants have died with congenital dilated cardiomyopathy, and there is a strong family history of unexplained death in infant males over at least four generations. Death always occurred in early infancy, without development of the characteristic features associated with Barth syndrome. Molecular analysis localised the gene in this family to Xq28 with lod scores of 2.3 at theta = 0.0 with dinucleotide repeat markers, p26 and p39, near DXS15 and at F8C. The proximal limit to the localisation of the gene in this family is defined by a recombinant at DXS296, while the distal limit could not be differentiated from the telomere. This localisation is consistent with a hypothesis of allelic and clinical heterogeneity at the BTHS locus in Xq28.Item Metadata only Organisation and origin of a B chromosome centromeric sequence from Brachycome dichromosomatica(Springer, 1995) Leach, C.; Donald, T.; Franks, T.; Spiniello, S.; Hanrahan, C.; Timmis, J.Brachycome dichromosomatica is an Australian native daisy that has two pairs of A chromosomes and up to three B chromosomes in some populations. A putative B-specific tandem repeat DNA sequence (Bd49) was isolated previously. Here we describe further characterisation of this sequence and investigate its possible origin. Southern analysis showed that all individual B chromosomes examined have highly methylated tandem repeats of Bd49 but differences in banding pattern for distinct B isolates suggested that the sequence is in a state of flux. Using in situ hybridisation, the sequence was shown to be located at the centromeric region of the B chromosome. Southern analysis of genomic DNA with Bd49 demonstrated that multiple copies of the sequence exist in the genomes of B. eriogona, B. ciliaris, B. segmentosa and B. multifida (none of which have B chromosomes) whereas other species tested (including 0B plants of B. dichromosomatica and 0B and +B B. curvicarpa and B. dentata) have few or no copies. Genomic clones and Bd49-like sequences derived by the polymerase chain reaction (PCR) were obtained from five species but determination of phylogenetic relationships within the genus and inference as to the possible origin of the B chromosome were problematic because of extensive intragenomic heterogeneity of the sequences.Item Metadata only Regional localisation of two non-specific X-linked mental retardation genes (MRX 30 and MRX 31)(WILEY-LISS, 1996) Donnelly, A.; Partington, M.; Ryan, A.; Mulley, J.Item Metadata only Regulation of Carbon Metabolism in Mycelial Fungi(Springer - Verlag, 1996) Felenbok, B.; Kelly, J.