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Genetic analysis of genes found on the 4th chromosome of Drosophila - emphasizing the developmental context of Pax6
Umeå University, Faculty of Medicine, Molecular Biology.
2004 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The small size and the lack of recombination set the fourth chromosome of Drosophila melanogaster apart from the other chromosomes. I have shown that the Minute gene on chromosome 4, earlier named Minute-4, encodes the ribosomal protein RpS3A. Two Pax6 genes, eyeless (ey) and twin of eyeless (toy) are also located on chromosome 4.

Pax6 genes are important in head and eye development in both mammals and Drosophila. I have focused much of the study on ey and toy. The first mutant of toy that was characterized showed a headless phenotype. This indicates that Toy is important for the development of both the eye and antennal discs. The phenotype of the null mutation in toy is temperature sensitive due to that transcription of ey is temperature dependent in the eye-antennal primordium in absence of Toy. This temperature dependence was used to find out that the phenocritical period for ey in the adult head development is during embryonic stage 12-16 when ey first is expressed in the eye-antennal primordium. I also conclude that ey is activated by Toy in the eye-antennal primordium.

The strong eyD mutation was molecularly characterized and it was finally settled that it is an allele in the ey locus. I also show that eyD homozygotes have a headless phenotype, much stronger than the earlier ey mutations.

Place, publisher, year, edition, pages
2004. , 46 p.
Keyword [en]
Molecular genetics, Pax6, twin of eyeless, headless flies, head development, eye development, eyeless, Minute, RpS3A, regulatory region, Drosophila
Keyword [sv]
Genetik
National Category
Genetics
Research subject
Genetics
Identifiers
URN: urn:nbn:se:umu:diva-287ISBN: 91-7305-603-0 (print)OAI: oai:DiVA.org:umu-287DiVA: diva2:142959
Public defence
2004-05-07, E 04, 6E, Norrlands Universitetssjukus, Umeå, 13:00
Opponent
Supervisors
Available from: 2004-06-02 Created: 2004-06-02 Last updated: 2010-08-02Bibliographically approved
List of papers
1. Genetic organization of the ci-M-pan region on chromosome IV in Drosophila melanogaster.
Open this publication in new window or tab >>Genetic organization of the ci-M-pan region on chromosome IV in Drosophila melanogaster.
1999 (English)In: Genome, ISSN 0831-2796, E-ISSN 1480-3321, Vol. 42, no 6, 1144-1149 p.Article in journal (Refereed) Published
Abstract [en]

The genes cubitus interruptus (ci), ribosomal protein S3A (RpS3A), and pangolin (pan) are localized within 73 kb in the cytological region 101F-102A on chromosome IV in Drosophila melanogaster. A region of 13 kb harbours the regulatory regions of both ci and pan, transcribed in opposite directions, and a 1.1-kb gene encoding RpS3A. This dense clustering gives rise to very complicated complementation patterns between different alleles in these loci. We investigated this region genetically and molecularly by use of an enhancer trap line (IA5), where the P-element was found to be inserted into the first intron of pan. Screens for imprecise excisions of the P-element were performed, and complementations between new and old established mutant lines were investigated. We found that when mutated or deleted the RpS3A gene gives rise to a Minute phenotype, and we conclude that M(4)101 encodes the ribosomal protein S3A.

Keyword
Animals, Blotting; Northern, DNA Transposable Elements, DNA-Binding Proteins/*genetics, Drosophila Proteins, Drosophila melanogaster/embryology/*genetics, Female, Genes; Insect, Genetic Complementation Test, Insect Proteins/*genetics, Male, Repressor Proteins, Ribosomal Proteins/*genetics, Transcription Factors/*genetics, beta-Galactosidase/genetics
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:umu:diva-17911 (URN)10659782 (PubMedID)
Available from: 2007-11-23 Created: 2007-11-23 Last updated: 2010-08-02Bibliographically approved
2. Headless flies produced by mutations in the paralogous Pax6 genes eyeless and twin of eyeless.
Open this publication in new window or tab >>Headless flies produced by mutations in the paralogous Pax6 genes eyeless and twin of eyeless.
Show others...
2002 (English)In: Development, ISSN 0950-1991, E-ISSN 1477-9129, Vol. 129, no 4, 1015-1026 p.Article in journal (Refereed) Published
Abstract [en]

The two Pax6 gene homologs eyeless and twin of eyeless play decisive early roles in Drosophila eye development. Strong mutants of twin of eyeless or of eyeless are headless, which suggests that they are required for the development of all structures derived from eye-antennal discs. The activity of these genes is crucial at the very beginning of eye-antennal development in the primordia of eye-antennal discs when eyeless is first activated by the twin of eyeless gene product. This activation does not strictly depend on the Twin of eyeless protein, but is temperature-dependent in its absence. Twin of eyeless acts also in parallel to the eyeless gene and exerts functions that are partially redundant with those of Eyeless, while Eyeless is mainly required to prevent early cell death and promote eye development in eye-antennal discs.

Keyword
Animals, DNA-Binding Proteins/genetics/*physiology, Drosophila Proteins, Drosophila melanogaster/embryology/genetics/growth & development/metabolism, Eye/embryology, Eye Proteins/genetics/*physiology, Head, Homeodomain Proteins, Mutagenesis, Mutagenesis; Insertional, Paired Box Transcription Factors, Phenotype, Repressor Proteins, Temperature, Trans-Activation (Genetics), Trans-Activators/biosynthesis/genetics/*physiology, Transcription; Genetic
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:umu:diva-17910 (URN)11861484 (PubMedID)
Available from: 2007-11-23 Created: 2007-11-23 Last updated: 2010-08-02Bibliographically approved

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