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speck, First Identified in Drosophila melanogaster in 1910, Is Encoded by the Arylalkalamine N-Acetyltransferase (AANAT1) Gene.

Publication ,  Journal Article
Spana, EP; Abrams, AB; Ellis, KT; Klein, JC; Ruderman, BT; Shi, AH; Zhu, D; Stewart, A; May, S
Published in: G3 (Bethesda)
September 2, 2020

The pigmentation mutation speck is a commonly used recombination marker characterized by a darkly pigmented region at the wing hinge. Identified in 1910 by Thomas Hunt Morgan, speck was characterized by Sturtevant as the most "workable" mutant in the rightmost region of the second chromosome and eventually localized to 2-107.0 and 60C1-2. Though the first speck mutation was isolated over 110 years ago, speck is still not associated with any gene. Here, as part of an undergraduate-led research effort, we show that speck is encoded by the Arylalkylamine N-acetyltransferase 1 (AANAT1) gene. Both alleles from the Morgan lab contain a retrotransposon in exon 1 of the RB transcript of the AANAT1 gene. We have also identified a new insertion allele and generated multiple deletion alleles in AANAT1 that all give a strong speck phenotype. In addition, expression of AANAT1 RNAi constructs either ubiquitously or in the dorsal portion of the developing wing generates a similar speck phenotype. We find that speck alleles have additional phenotypes, including ectopic pigmentation in the posterior pupal case, leg joints, cuticular sutures and overall body color. We propose that the acetylated dopamine generated by AANAT1 decreases the dopamine pool available for melanin production. When AANAT1 function is decreased, the excess dopamine enters the melanin pathway to generate the speck phenotype.

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Published In

G3 (Bethesda)

DOI

EISSN

2160-1836

Publication Date

September 2, 2020

Volume

10

Issue

9

Start / End Page

3387 / 3398

Location

England

Related Subject Headings

  • Wings, Animal
  • Pupa
  • Phenotype
  • Mutation
  • Drosophila melanogaster
  • Drosophila Proteins
  • Animals
  • Alleles
  • Acetyltransferases
  • 4905 Statistics
 

Citation

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Spana, E. P., Abrams, A. B., Ellis, K. T., Klein, J. C., Ruderman, B. T., Shi, A. H., … May, S. (2020). speck, First Identified in Drosophila melanogaster in 1910, Is Encoded by the Arylalkalamine N-Acetyltransferase (AANAT1) Gene. G3 (Bethesda), 10(9), 3387–3398. https://doi.org/10.1534/g3.120.401470
Spana, Eric P., Amanda B. Abrams, Katharine T. Ellis, Jason C. Klein, Brandon T. Ruderman, Alvin H. Shi, Daniel Zhu, Andrea Stewart, and Susan May. “speck, First Identified in Drosophila melanogaster in 1910, Is Encoded by the Arylalkalamine N-Acetyltransferase (AANAT1) Gene.G3 (Bethesda) 10, no. 9 (September 2, 2020): 3387–98. https://doi.org/10.1534/g3.120.401470.
Spana EP, Abrams AB, Ellis KT, Klein JC, Ruderman BT, Shi AH, et al. speck, First Identified in Drosophila melanogaster in 1910, Is Encoded by the Arylalkalamine N-Acetyltransferase (AANAT1) Gene. G3 (Bethesda). 2020 Sep 2;10(9):3387–98.
Spana, Eric P., et al. “speck, First Identified in Drosophila melanogaster in 1910, Is Encoded by the Arylalkalamine N-Acetyltransferase (AANAT1) Gene.G3 (Bethesda), vol. 10, no. 9, Sept. 2020, pp. 3387–98. Pubmed, doi:10.1534/g3.120.401470.
Spana EP, Abrams AB, Ellis KT, Klein JC, Ruderman BT, Shi AH, Zhu D, Stewart A, May S. speck, First Identified in Drosophila melanogaster in 1910, Is Encoded by the Arylalkalamine N-Acetyltransferase (AANAT1) Gene. G3 (Bethesda). 2020 Sep 2;10(9):3387–3398.

Published In

G3 (Bethesda)

DOI

EISSN

2160-1836

Publication Date

September 2, 2020

Volume

10

Issue

9

Start / End Page

3387 / 3398

Location

England

Related Subject Headings

  • Wings, Animal
  • Pupa
  • Phenotype
  • Mutation
  • Drosophila melanogaster
  • Drosophila Proteins
  • Animals
  • Alleles
  • Acetyltransferases
  • 4905 Statistics