Reference Report

Reference
Citation	Simonsen, A., Cumming, R.C., Lindmo, K., Galaviz, V., Cheng, S., Rusten, T.E., Finley, K.D. (2007). Genetic modifiers of the Drosophila blue cheese gene link defects in lysosomal transport with decreased life span and altered ubiquitinated-protein profiles. Genetics 176(2): 1283--1297. (Export to RIS)
FlyBase ID	FBrf0201586
Publication Type	Research paper
PubMed ID	17435236
PubMed Abstract	Defects in lysosomal trafficking pathways lead to decreased cell viability and are associated with progressive disorders in humans. Previously we have found that loss-of-function (LOF) mutations in the Drosophila gene blue cheese (bchs) lead to reduced adult life span, increased neuronal death, and widespread CNS degeneration that is associated with the formation of ubiquitinated-protein aggregates. To identify potential genes that participate in the bchs functional pathway, we conducted a genetic modifier screen based on alterations of an eye phenotype that arises from high-level overexpression of Bchs. We found that mutations in select autophagic and endocytic trafficking genes, defects in cytoskeletal and motor proteins, as well as mutations in the SUMO and ubiquitin signaling pathways behave as modifiers of the Bchs gain-of-function (GOF) eye phenotype. Individual mutant alleles that produced viable adults were further examined for bchs-like phenotypes. Mutations in several lysosomal trafficking genes resulted in significantly decreased adult life spans and several mutants showed changes in ubiquitinated protein profiles as young adults. This work represents a novel approach to examine the role that lysosomal transport and function have on adult viability. The genes characterized in this study have direct human homologs, suggesting that similar defects in lysosomal transport may play a role in human health and age-related processes.
DOI	10.1534/genetics.106.065011
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Genetics
Title	Genetics
Publication Year	1916-
ISBN/ISSN	0016-6731
Data from Reference
Aberrations (3)
	Df(2L)cl7 Df(2L)dsf3 Df(2L)w12
Alleles (45)
	Atg1⁰⁰³⁰⁵ Atg2^EP3697 Atg6⁰⁰⁰⁹⁶ Atg8a² Atg8a^EP362 Atg18^KG03090 Avic\GFP^{Scer\UAS.T:Mmmm\c-Ha-Ras} bchs³ bchs⁵ bchs^EP2299 bchs^rev1 btv^BG01771 ca¹ car¹ cm¹ Dlic^G0065 Dlic^G0190 dor¹ dor⁴ dor⁸ dsf^Scer\UAS.cPa eff^mer1 g¹ hk¹ hk¹¹ lt¹ ltd¹ lwr⁰⁵⁴⁸⁶ or¹ or^49h Rab11^93Bi Rab11^j2D1 rb¹ Rop^G27 ry²⁶ Scer\GAL4^GMR.PF smt3^k06307 spin^k09905 Syx1A^Δ229 Syx13⁰¹⁴⁷⁰ Uba1^s3484 Usp7^KG06814 αTub84B⁵ αTub84B⁷ βTub85D^D
Constructs (3)
	P{GAL4-ninaE.GMR} P{UAS-dsf.P} P{UAS-GFP.T:mammal\c-Ha-Ras}
Genes (36)
	Atg1 Atg2 Atg6 Atg8a Atg18 Avic\GFP bchs btv ca car cm Dlic dor dsf eff g hk lt ltd lwr or Rab11 rb Rop ry Scer\GAL4 smt3 spin Syx1A Syx13 Uba1 Ubi-p5E Ubi-p63E Usp7 αTub84B βTub85D
Insertions (1)
	P{EP}bchs^EP2299