Positional cloning of the sex-linked giant egg (Ge) locus in the silkworm, Bombyx mori

T. Fujii, H. Abe, M. Kawamoto, Y. Banno, T. Shimada

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The giant egg (Ge) locus is a Z-linked mutation that leads to the production of large eggs. Cytological observations suggest that an unusual translocation of a large fragment of the W chromosome bearing a putative egg size-determining gene, Esd, gave rise to giant egg mutants. However, there is currently no molecular evidence confirming either a W-Z translocation or the presence of Esd on the W chromosome. To elucidate the origin of giant egg mutants, we performed positional cloning. We observed that the Bombyx mori. orthologue of the human Phytanoyl-CoA dioxygenase domain containing 1 gene (PHYHD1) is disrupted in giant egg mutants. PHYHD1 is highly conserved in eukaryotes and is predicted to be a Fe(II) and 2-oxoglutarate-dependent oxygenase. Exon skipping in one of the two available Ge mutants is probably caused by the insertion of a non-long terminal repeat transposon into intron 4 in the vicinity of the 5a2 splice site. Segmental duplication in Ge2, an independent allele, was caused by unequal recombination between short interspersed elements inserted into introns 3 and 5. Our results indicate that (1) Bombyx PHYHD1 is responsible for the Ge mutants and that (2) the Ge locus is unrelated to the W-linked putative Esd. To our knowledge, this is the first report describing the phenotypic defects caused by mutations in PHYHD1 orthologues.

Original languageEnglish
Pages (from-to)213-221
Number of pages9
JournalInsect Molecular Biology
Volume24
Issue number2
DOIs
Publication statusPublished - Apr 1 2015

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Bombyx
Bombyx mori
silkworms
Ovum
Organism Cloning
molecular cloning
mutants
loci
gender
W chromosome
introns
mutation
terminal repeat sequences
Introns
oxygenases
Chromosomes
transposons
Genomic Segmental Duplications
exons
eukaryotic cells

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Insect Science

Cite this

Positional cloning of the sex-linked giant egg (Ge) locus in the silkworm, Bombyx mori. / Fujii, T.; Abe, H.; Kawamoto, M.; Banno, Y.; Shimada, T.

In: Insect Molecular Biology, Vol. 24, No. 2, 01.04.2015, p. 213-221.

Research output: Contribution to journalArticle

Fujii, T. ; Abe, H. ; Kawamoto, M. ; Banno, Y. ; Shimada, T. / Positional cloning of the sex-linked giant egg (Ge) locus in the silkworm, Bombyx mori. In: Insect Molecular Biology. 2015 ; Vol. 24, No. 2. pp. 213-221.
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