Exaggeration and Inhibition Phenomena encountered in the analysis of an autosomal dominant

Mohr, Otto L.

doi:10.1007/bf01742053

Cited by 14 publications

(11 citation statements)

References 17 publications

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“…We did, however, examine pre-existing dp v alleles, dp v1 and dp v2 [4], [7], [8]. Both were originally recovered in the Morgan laboratory at Columbia University early last century.…”

Section: Resultsmentioning

confidence: 99%

A Molecular Analysis of Mutations at the Complex dumpy Locus in Drosophila melanogaster

et al. 2010

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The Drosophila dumpy gene consists of seventy eight coding exons and encodes a huge extracellular matrix protein containing large numbers of epidermal growth factor-like (EGF) modules and a novel module called dumpy (DPY). A molecular analysis of forty five mutations in the dumpy gene of Drosophila melanogaster was carried out. Mutations in this gene affect three phenotypes: wing shape, thoracic cuticular defects, and lethality. Most of the mutations were chemically induced in a single dumpy allele and were analyzed using a nuclease that cleaves single base pair mismatches in reannealed duplexes followed by dHPLC. Additionally, several spontaneous mutations were analyzed. Virtually all of the chemically induced mutations, except for several in a single exon, either generate nonsense codons or lesions that result in downstream stop codons in the reading frame. The remaining chemically induced mutations remove splice sites in the nascent dumpy message. We propose that the vast majority of nonsense mutations that affect all three basic dumpy phenotypes are in constitutive exons, whereas nonsense mutants that remove only one or two of the basic functions are in alternatively spliced exons. Evolutionary comparisons of the dumpy gene from seven Drosophila species show strong conservation of the 5′ ends of exons where mutants with partial dumpy function are found. In addition, reverse transcription PCR analyses reveal transcripts in which exons marked by nonsense mutations with partial dumpy function are absent.

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“…We did, however, examine pre-existing dp v alleles, dp v1 and dp v2 [4], [7], [8]. Both were originally recovered in the Morgan laboratory at Columbia University early last century.…”

Section: Resultsmentioning

confidence: 99%

A Molecular Analysis of Mutations at the Complex dumpy Locus in Drosophila melanogaster

et al. 2010

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“…Notably, in addition to its function in planar polarity, Fj is also required for PD limb patterning, a property it shares with the atypical cadherins encoded by the fat ( ft) and dachsous (ds) genes, with which it interacts genetically (Mohr 1923(Mohr , 1929Waddington 1943;Mahoney et al 1991;Clark et al 1995). ft and ds were also known to be required for planar polarity (Adler et al 1998) and ds is expressed in a gradient in the eye disc (Clark et al 1995), high at the poles, as if positively regulated by Wg.…”

Section: Gradients In the Eyementioning

confidence: 99%

Gradients and the Specification of Planar Polarity in the Insect Cuticle

Strutt

2009

Cold Spring Harbor Perspectives in Biology

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In addition to specifying cell fate, there is a wealth of evidence that molecular gradients are also primarily responsible for specifying cell polarity, particularly in the plane of epithelial sheets ("planar polarity"). The first compelling evidence of a role for gradients in specifying planar polarity came from transplantation experiments in the insect cuticle. More recent molecular genetic analyses in the fruit fly Drosophila have begun to give insights into the molecular nature of the gradients involved, and how they are interpreted at the cellular level.

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“…(13,14) Mutants in ds and ft were first identified because they had defects in proximodistal patterning of adult limbs. (15,16) fj mutants have similar proximodistal patterning defects, (17)(18)(19) leading to the suggestion that they might act in a common process. fj encodes a type II transmembrane protein in which the extracellular C-terminal domain can be cleaved and secreted, and was thus proposed to be an intercellular signalling molecule.…”

Section: Introductionmentioning

confidence: 96%

Long‐range coordination of planar polarity in Drosophila

Strutt

2005

BioEssays

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The mechanisms by which cells become polarised in the plane of an epithelium have been studied in Drosophila for many years. Work has focussed on two key questions: firstly, how individual cells adopt a defined polarity, and secondly how the polarity of each cell within a tissue is aligned with its neighbours. It has been established that asymmetric subcellular localisation of a number of polarity proteins is an essential mechanism underlying polarisation of single cells. The process by which this polarity is coordinated between cells however is less well understood, but is thought to involve gradients of activity of the atypical cadherins Dachsous and Fat. Subsequently, this long-range polarity signal is refined by local cell-cell interactions involving the transmembrane molecules Frizzled, Strabismus and Flamingo. The role of these factors in coordinating polarity will be discussed.

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Exaggeration and Inhibition Phenomena encountered in the analysis of an autosomal dominant

Cited by 14 publications

References 17 publications

A Molecular Analysis of Mutations at the Complex dumpy Locus in Drosophila melanogaster

A Molecular Analysis of Mutations at the Complex dumpy Locus in Drosophila melanogaster

Gradients and the Specification of Planar Polarity in the Insect Cuticle

Long‐range coordination of planar polarity in Drosophila

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