Spongiform degeneration in mahoganoid mutant mice

Lin He, Xinyun Lu, Aaron F. Jolly, Adam G. Eldridge, Stanley J. Watson, Peter K. Jackson, Gregory S. Barsh, Teresa M. Gunn

Research output: Contribution to journalArticle

107 Citations (Scopus)

Abstract

mahoganoid is a mouse coat-color mutation whose pigmentary phenotype and genetic interactions resemble those of Attractin (Atrn). Atrn mutations also cause spongiform neurodegeneration. Here, we show that a null mutation for mahoganoid causes a similar age-dependent neuropathology that includes many features of prion diseases but without accumulation of protease-resistant prion protein. The gene mutated in mahoganoid encodes a RING-containing protein with E3 ubiquitin ligase activity in vitro. Similarities in phenotype, expression, and genetic interactions suggest that mahoganoid and Atrn genes are part of a conserved pathway for regulated protein turnover whose function is essential for neuronal viability.

Original languageEnglish (US)
Pages (from-to)710-712
Number of pages3
JournalScience
Volume299
Issue number5607
DOIs
StatePublished - Jan 31 2003
Externally publishedYes

Fingerprint

Mutation
Phenotype
Prion Diseases
Ubiquitin-Protein Ligases
Genes
Peptide Hydrolases
Color
Proteins
Neuropathology
In Vitro Techniques
Prion Proteins

ASJC Scopus subject areas

  • Medicine(all)
  • General

Cite this

He, L., Lu, X., Jolly, A. F., Eldridge, A. G., Watson, S. J., Jackson, P. K., ... Gunn, T. M. (2003). Spongiform degeneration in mahoganoid mutant mice. Science, 299(5607), 710-712. https://doi.org/10.1126/science.1079694

Spongiform degeneration in mahoganoid mutant mice. / He, Lin; Lu, Xinyun; Jolly, Aaron F.; Eldridge, Adam G.; Watson, Stanley J.; Jackson, Peter K.; Barsh, Gregory S.; Gunn, Teresa M.

In: Science, Vol. 299, No. 5607, 31.01.2003, p. 710-712.

Research output: Contribution to journalArticle

He, L, Lu, X, Jolly, AF, Eldridge, AG, Watson, SJ, Jackson, PK, Barsh, GS & Gunn, TM 2003, 'Spongiform degeneration in mahoganoid mutant mice', Science, vol. 299, no. 5607, pp. 710-712. https://doi.org/10.1126/science.1079694
He L, Lu X, Jolly AF, Eldridge AG, Watson SJ, Jackson PK et al. Spongiform degeneration in mahoganoid mutant mice. Science. 2003 Jan 31;299(5607):710-712. https://doi.org/10.1126/science.1079694
He, Lin ; Lu, Xinyun ; Jolly, Aaron F. ; Eldridge, Adam G. ; Watson, Stanley J. ; Jackson, Peter K. ; Barsh, Gregory S. ; Gunn, Teresa M. / Spongiform degeneration in mahoganoid mutant mice. In: Science. 2003 ; Vol. 299, No. 5607. pp. 710-712.
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