Reference Report

Reference
Citation	Fluegel, M.L., Parker, T.J., Pallanck, L.J. (2006). Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects. Genetics 172(1): 185--196. (Export to RIS)
FlyBase ID	FBrf0190720
Publication Type	Research paper
PubMed ID	16079224
PubMed Abstract	The molecular mechanisms by which dietary cholesterol is trafficked within cells are poorly understood. Previous work indicates that the NPC1 family of proteins plays an important role in this process, although the precise functions performed by this protein family remain elusive. We have taken a genetic approach to further explore the NPC1 family in the fruit fly Drosophila melanogaster. The Drosophila genome encodes two NPC1 homologs, designated NPC1a and NPC1b, that exhibit 42% and 35% identity to the human NPC1 protein, respectively. Here we describe the results of mutational analysis of the NPC1a gene. The NPC1a gene is ubiquitously expressed, and a null allele of NPC1a confers early larval lethality. The recessive lethal phenotype of NPC1a mutants can be partially rescued on a diet of high cholesterol or one that includes the insect steroid hormone 20-hydroxyecdysone. We also find that expression of NPC1a in the ring gland is sufficient to rescue the lethality associated with the loss of NPC1a and that cholesterol levels in NPC1a mutant larvae are unchanged relative to controls. Our results suggest that NPC1a promotes efficient intracellular trafficking of sterols in many Drosophila tissues including the ring gland where sterols must be delivered to sites of ecdysone synthesis.
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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 (2)
	Df(2L)J2 Df(2L)NPC1^27A
Alleles (24)
	Npc1a^14A Npc1a^25A Npc1a^27A Npc1a^57A Npc1a^65A Npc1a^94A Npc1a^+t9.4 Npc1a^EY00751 Npc1a^Scer\UAS.cFa Npc1a^t8 Prosα6^27A Prosα6^+t8 Prosα6^LA1 Prosα6^t9.4 Scer\GAL4^2-286 Scer\GAL4^elav-C155 Scer\GAL4^how-24B Scer\GAL4^Lsp2.PH Scer\GAL4^MJ33a Scer\GAL4^P0206 Scer\GAL4^phm.PO Scer\GAL4^tub.PU Scer\GAL4^twi.PG w^+mC
Constructs (9)
	P{?EPgy2} P{GAL4-twi.G} P{lacW} P{Lsp2-GAL4.H} P{NPC1^+t9.4} P{phm-GAL4.O} P{Pros35^+t8} P{tub-GAL4.U} P{UAS-NPC1.F}
Genes (5)
	Npc1a Npc1b Prosα6 Scer\GAL4 w
Insertions (11)
	P{?EPgy2}Npc1a^14A P{?EPgy2}Npc1a^25A P{?EPgy2}Npc1a^94A P{EPgy2}Npc1a^EY00751 P{GAL4}P0206 P{GawB}2-286 P{GawB}elav^C155 P{GawB}how^24B P{GawB}MJ33a P{lacW}me31B^k06607 P{lacW}Prosα6^LA1
Natural transposons (1)
	P-element