Reference Report

Reference
Citation	Buff, H., Smith, A.C., Korey, C.A. (2007). Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration. Genetics 176(1): 209--220. (Export to RIS)
FlyBase ID	FBrf0201672
Publication Type	Research paper
PubMed ID	17409080
PubMed Abstract	Infantile neuronal ceroid lipofuscinosis (INCL) is a pediatric neurodegenerative disease caused by mutations in the human CLN1 gene. CLN1 encodes palmitoyl-protein thioesterase 1 (PPT1), suggesting an important role for the regulation of palmitoylation in normal neuronal function. To further elucidate Ppt1 function, we performed a gain-of-function modifier screen in Drosophila using a collection of enhancer-promoter transgenic lines to suppress or enhance the degeneration produced by overexpression of Ppt1 in the adult visual system. Modifier genes identified in our screen connect Ppt1 function to synaptic vesicle cycling, endo-lysosomal trafficking, synaptic development, and activity-dependent remodeling of the synapse. Furthermore, several homologs of the modifying genes are known to be regulated by palmitoylation in other systems and may be in vivo substrates for Ppt1. Our results complement recent work on mouse Ppt1(-/-) cells that shows a reduction in synaptic vesicle pools in primary neuronal cultures and defects in endosomal trafficking in human fibroblasts. The pathways and processes implicated by our modifier loci shed light on the normal cellular function of Ppt1. A greater understanding of Ppt1 function in these cellular processes will provide valuable insight into the molecular etiology of the neuronal dysfunction underlying the disease.
DOI	10.1534/genetics.106.067983
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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
Alleles (42)
	bchs^EY02503 CG5991^EY03559 CG32138^EY03931 endoA^EP464 endoA^Scer\UAS.cVa endoA^Δ4 faf^BX4 faf^EY02018 faf^Scer\UAS.cHa Fas2^EB112 Fas2^EP1462 Fas2^Scer\UAS.cHa fs(1)N¹ fs(1)N^EP1336 Hsap\MAPT^{V337M.Scer\UAS} Hsc70-3^EP1507 IntS8^EP2090 Jarid2^EY00142 kay^EY00283 kay^Scer\UAS.cEa m¹ m^EP406 MESR4^EP386 Mrp4^EP430 msn¹⁰² msn^EP549 msn^Scer\UAS.cSa mys¹ mys^EP1033 mys^Scer\UAS.cDa Naa60^EP3301 Ppt1^Scer\UAS.cKa sax⁵ sax^A.Scer\UAS sax^EY04377 Scer\GAL4^GMR.PF sro¹ stnA^Scer\UAS.cEa stnB^Scer\UAS.cEa Syt1^Scer\UAS.cLa Ubc-E2H^EP1303 Usp12-46^EY00249
Constructs (13)
	P{GAL4-ninaE.GMR} P{UAS-endo.V} P{UAS-faf.H} P{UAS-Fas2.H} P{UAS-Fra} P{UAS-Hsap\MAPT.V337M} P{UAS-msn.S} P{UAS-mys.D} P{UAS-Ppt1.K} P{UAS-sax.A} P{UAS-stnA.E} P{UAS-stnB.E} P{UAS-sytI.L}
Genes (26)
	bchs CG5991 CG32138 endoA faf Fas2 fs(1)N Hsap\MAPT Hsc70-3 IntS8 Jarid2 kay m MESR4 Mrp4 msn mys Naa60 Ppt1 sax Scer\GAL4 stnA stnB Syt1 Ubc-E2H Usp12-46
Insertions (20)
	P{EP}endoA^EP464 P{EP}Fas2^EP1462 P{EP}fs(1)h^EP1033 P{EP}fs(1)N^EP1336 P{EP}Hsc70-3^EP1507 P{EP}IntS8^EP2090 P{EP}m^EP406 P{EP}MESR4^EP386 P{EP}Mrp4^EP430 P{EP}msn^EP549 P{EP}Naa60^EP3301 P{EP}Ubc-E2H^EP1303 P{EPgy2}bchs^EY02503 P{EPgy2}CG5991^EY03559 P{EPgy2}CG32138^EY03931 P{EPgy2}faf^EY02018 P{EPgy2}Jarid2^EY00142 P{EPgy2}kay^EY00283 P{EPgy2}Nop17l^EY04377 P{EPgy2}Usp12-46^EY00249