Reference Report

Reference
Citation	Chen, H., Liu, Z., Huang, X. (2010). Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. Hum. Mol. Genet. 19(3): 494--505. (Export to RIS)
FlyBase ID	FBrf0209624
Publication Type	Research paper
PubMed ID	19933170
PubMed Abstract	Peroxisomes are vital eukaryotic organelles that participate in lipid metabolism, in particular the metabolism of very-long-chain fatty acids (VLCFA). The biogenesis of peroxisomes is regulated by a set of peroxin proteins (PEX). In humans, mutations affecting peroxin protein production or function result in devastating diseases classified as peroxisome biogenesis disorders (PBD). The way in which peroxisomal dysfunction leads to the pathophysiological consequences of PBD is not well understood. Here we report that Drosophila pex mutants faithfully recapitulate several key features of human PBD, including impaired peroxisomal protein import, elevated VLCFA levels and growth retardation. Moreover, disruption of pex function results in spermatogenesis defects, including spermatocyte cytokinesis failure in Drosophila. Importantly, increased VLCFA levels enhance these spermatogenesis defects whereas reduced VLCFA levels alleviate them. Thus, regulation of proper VLCFA levels by pex genes is crucial for spermatogenesis. Together our study reveals an indispensable function of pex genes during spermatogenesis and provides a causative link between the phenotypic severity of pex mutants and VLCFA levels.
DOI	10.1093/hmg/ddp518
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Hum. Mol. Genet.
Title	Human Molecular Genetics
Publication Year	1992-
ISBN/ISSN	0964-6906
Data from Reference
Aberrations (1)
	Df(3L)Exel6112
Alleles (20)
	bond^Z3437 bond^Z5274 Pex1^s4868 Pex2^f01899 Pex2^HP35039 Pex2^Scer\UAS.cCa Pex2^{Scer\UAS.T:Disc\RFP-mCherry} Pex10⁷ Pex10¹⁰ Pex10^EY23523 Pex12^f01300 Pex13^KG04339 Pex16^EY05323 Sc2⁰⁵⁶³⁴ Sc2^EY02236 Scer\GAL4^Hsp83.PA Scer\GAL4^nos.PG Scer\GAL4^ptc-559.1 T:Disc\RFP^mCherry twe^T:Ecol\lacZ
Constructs (8)
	P{EPgy2} P{GAL4-nos.NGT} P{Hsp83-GAL4} P{SUPor-P} P{twe-lacZ} P{UAS-pex2.C} P{UAS-pex2-mCherry} PBac{WH}
Genes (12)
	bol bond dj Pex1 Pex2 Pex10 Pex12 Pex13 Pex16 Sc2 Scer\GAL4 twe
Insertions (5)
	P{EPgy2}CG12099^EY23523 P{EPgy2}Sc2^EY02236 P{GawB}ptc^559.1 P{SUPor-P}Pex13^KG04339 PBac{WH}Pex12^f01300
Natural transposons (1)
	P-element