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Dev Biol
2008 Nov 01;3231:130-42. doi: 10.1016/j.ydbio.2008.08.006.
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Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development.
Wu J
,
Capp C
,
Feng L
,
Hsieh TS
.
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Members of the RecQ family play critical roles in maintaining genome integrity. Mutations in human RecQL4 cause a rare genetic disorder, Rothmund-Thomson syndrome. Transgenic mice experiments showed that the RecQ4 null mutant causes embryonic lethality. Although biochemical evidence suggests that the Xenopus RecQ4 is required for the initiation of DNA replication in the oocyte extract, its biological functions during development remain to be elucidated. We present here our results in establishing the use of Drosophila as a model system to probe RecQ4 functions. Immunofluorescence experiments monitoring the cellular distribution of RecQ4 demonstrated that RecQ4 expression peaks during S phase, and RecQ4 is expressed only in tissues active in DNA replication, but not in quiescent cells. We have isolated Drosophila RecQ4 hypomorphic mutants, recq(EP) and recq4(23), which specifically reduce chorion gene amplification of follicle cells by 4-5 fold, resulting in thin and fragile eggshells, and female sterility. Quantitative analysis on amplification defects over a 14-kb domain in chorion gene cluster suggests that RecQ4 may have a specific function at or near the origin of replication. A null allele recq4(19) causes a failure in cell proliferation, decrease in DNA replication, chromosomal fragmentation, and lethality at the stage of first instar larvae. The mosaic analysis indicates that cell clones with homozygous recq4(19) fail to proliferate. These results indicate that RecQ4 is essential for viability and fertility, and is required for most aspects of DNA replication during development.
Adams,
Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing.
2003, Pubmed
Adams,
Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing.
2003,
Pubmed
Asano,
E2F mediates developmental and cell cycle regulation of ORC1 in Drosophila.
1999,
Pubmed
Bachrati,
RecQ helicases: suppressors of tumorigenesis and premature aging.
2003,
Pubmed
Bachrati,
RecQ helicases: guardian angels of the DNA replication fork.
2008,
Pubmed
Bender,
Chromosomal walking and jumping to isolate DNA from the Ace and rosy loci and the bithorax complex in Drosophila melanogaster.
1983,
Pubmed
Brosh,
Human premature aging, DNA repair and RecQ helicases.
2007,
Pubmed
Bryant,
Intrinsic growth control in the imaginal primordia of Drosophila, and the autonomous action of a lethal mutation causing overgrowth.
1985,
Pubmed
Calvi,
Cell cycle control of chorion gene amplification.
1998,
Pubmed
Calvi,
Chorion gene amplification in Drosophila: A model for metazoan origins of DNA replication and S-phase control.
1999,
Pubmed
Claycomb,
Gene amplification as a developmental strategy: isolation of two developmental amplicons in Drosophila.
2004,
Pubmed
Delidakis,
Amplification enhancers and replication origins in the autosomal chorion gene cluster of Drosophila.
1989,
Pubmed
Deng,
Spectrosomes and fusomes anchor mitotic spindles during asymmetric germ cell divisions and facilitate the formation of a polarized microtubule array for oocyte specification in Drosophila.
1997,
Pubmed
Drysdale,
FlyBase: genes and gene models.
2005,
Pubmed
Edgar,
Endoreplication cell cycles: more for less.
2001,
Pubmed
Engels,
High-frequency P element loss in Drosophila is homolog dependent.
1990,
Pubmed
Hanada,
Molecular genetics of RecQ helicase disorders.
2007,
Pubmed
Heck,
Multiple replication origins are used during Drosophila chorion gene amplification.
1990,
Pubmed
Hoki,
Growth retardation and skin abnormalities of the Recql4-deficient mouse.
2003,
Pubmed
Ichikawa,
[Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases].
2002,
Pubmed
Johnston,
Wingless and Notch regulate cell-cycle arrest in the developing Drosophila wing.
1998,
Pubmed
Khakhar,
RecQ helicases: multiple roles in genome maintenance.
2003,
Pubmed
Kitao,
Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
1998,
Pubmed
Kitao,
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
1999,
Pubmed
Kusano,
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70.
2001,
Pubmed
Landis,
The k43 gene, required for chorion gene amplification and diploid cell chromosome replication, encodes the Drosophila homolog of yeast origin recognition complex subunit 2.
1997,
Pubmed
Landis,
The Drosophila chiffon gene is required for chorion gene amplification, and is related to the yeast Dbf4 regulator of DNA replication and cell cycle.
1999,
Pubmed
Larizza,
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
2006,
Pubmed
,
Xenbase
Lilly,
The Drosophila endocycle is controlled by Cyclin E and lacks a checkpoint ensuring S-phase completion.
1996,
Pubmed
Lin,
The Drosophila fusome, a germline-specific organelle, contains membrane skeletal proteins and functions in cyst formation.
1994,
Pubmed
Macris,
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.
2006,
Pubmed
Mandaravally Madhavan,
Histological analysis of the dynamics of growth of imaginal discs and histoblast nests during the larval development ofDrosophila melanogaster.
1977,
Pubmed
Mann,
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.
2005,
Pubmed
Masumoto,
S-Cdk-dependent phosphorylation of Sld2 essential for chromosomal DNA replication in budding yeast.
2002,
Pubmed
Matsuno,
The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication.
2006,
Pubmed
,
Xenbase
McVey,
Multiple functions of Drosophila BLM helicase in maintenance of genome stability.
2007,
Pubmed
Noguchi,
CDK phosphorylation of Drc1 regulates DNA replication in fission yeast.
2002,
Pubmed
Orr-Weaver,
Drosophila chorion genes: cracking the eggshell's secrets.
1991,
Pubmed
Ozsoy,
Analysis of helicase activity and substrate specificity of Drosophila RECQ5.
2003,
Pubmed
Petkovic,
The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.
2005,
Pubmed
Pflumm,
Orc mutants arrest in metaphase with abnormally condensed chromosomes.
2001,
Pubmed
Royzman,
ORC localization in Drosophila follicle cells and the effects of mutations in dE2F and dDP.
1999,
Pubmed
Rubin,
Genetic transformation of Drosophila with transposable element vectors.
1982,
Pubmed
Sander,
Double strand DNA cleavage by type II DNA topoisomerase from Drosophila melanogaster.
1983,
Pubmed
Sangrithi,
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome.
2005,
Pubmed
,
Xenbase
Schwed,
Drosophila minichromosome maintenance 6 is required for chorion gene amplification and genomic replication.
2002,
Pubmed
Sekelsky,
Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing.
1999,
Pubmed
Siitonen,
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
2003,
Pubmed
Spradling,
Amplification of genes for chorion proteins during oogenesis in Drosophila melanogaster.
1980,
Pubmed
Tanaka,
CDK-dependent phosphorylation of Sld2 and Sld3 initiates DNA replication in budding yeast.
2007,
Pubmed
Thummel,
Vectors for Drosophila P-element-mediated transformation and tissue culture transfection.
1988,
Pubmed
Van Maldergem,
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
2006,
Pubmed
Vennos,
Rothmund-Thomson syndrome.
1995,
Pubmed
Wang,
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
2003,
Pubmed
Werner,
RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.
2006,
Pubmed
Whittaker,
Drosophila double parked: a conserved, essential replication protein that colocalizes with the origin recognition complex and links DNA replication with mitosis and the down-regulation of S phase transcripts.
2000,
Pubmed
Wu,
A new Drosophila gene wh (wuho) with WD40 repeats is essential for spermatogenesis and has maximal expression in hub cells.
2006,
Pubmed
Xu,
Analysis of genetic mosaics in developing and adult Drosophila tissues.
1993,
Pubmed
Yin,
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
2004,
Pubmed
Zegerman,
Phosphorylation of Sld2 and Sld3 by cyclin-dependent kinases promotes DNA replication in budding yeast.
2007,
Pubmed
Zhang,
Isolation and characterization of a Drosophila gene essential for early embryonic development and formation of cortical cleavage furrows.
1996,
Pubmed
