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© The Rockefeller University Press, 0021-9525/1999//1123 $5.00
The Journal of Cell Biology, Volume 144, Number 6, , 1999 1123-1133

Regular Articles

minifly, A Drosophila Gene Required for Ribosome Biogenesis



Ennio Giordano, Ivana Peluso, Stefania Senger, and Maria Furia

Dipartimento di Genetica, Biologia Generale e Molecolare, Università di Napoli Federico II, I-80134 Napoli, Italy

We report here the genetic, molecular, and functional characterization of the Drosophila melanogaster minifly (mfl) gene. Genetic analysis shows that mfl is essential for Drosophila viability and fertility. While P-element induced total loss-of-function mutations cause lethality, mfl partial loss-of-function mutations cause pleiotropic defects, such as extreme reduction of body size, developmental delay, hatched abdominal cuticle, and reduced female fertility. Morphological abnormalities characteristic of apoptosis are found in the ovaries, and a proportion of eggs laid by mfl mutant females degenerates during embryogenesis. We show that mfl encodes an ubiquitous nucleolar protein that plays a central role in ribosomal RNA processing and pseudouridylation, whose known eukaryotic homologues are yeast Cfb5p, rat NAP57 and human dyskerin, encoded by the gene responsible for the X-linked dyskeratosis congenita disease. mfl genetic analysis represents the first in vivo functional characterization of a member of this highly conserved gene family from higher eukaryotes. In addition, we report that mfl hosts an intron encoded box H/ACA snoRNA gene, the first member of this class of snoRNAs identified so far from Drosophila.

Key Words: Drosophila • rRNA • ribosome • nucleolus • snoRNA

Abbreviations used in this paper: AO, acridine orange; ITS, internal transcribed spacer; nt, nucleotide; ORF, open reading frame; snoRNA, small nucleolar RNA; Up, uracil-binding pocket.

Address correspondence to Maria Furia, Dipartimento di Genetica, Biologia Generale e Molecolare, via Mezzocannone 8, I-80134, Napoli, Italy. Tel.: 39 081 7903413 or 39 081 7903419. Fax: 39 081 5527950. E-mail: furia{at}biol.dgbm.unina.it

S. Senger was supported by a Ph.D. fellowship from European Union. This work was supported by funds of MURST PRIN Project Molecular regulation of Development to M. Furia.


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