RRC ID 33187
著者 Fujii T, Abe H, Kawamoto M, Banno Y, Shimada T.
タイトル Positional cloning of the sex-linked giant egg (Ge) locus in the silkworm, Bombyx mori.
ジャーナル Insect Mol Biol
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 5' splice site. Segmental duplication in Ge(2) , 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.
巻・号 24(2)
ページ 213-21
公開日 2015-4-1
DOI 10.1111/imb.12150
PMID 25469867
MeSH Animals Base Sequence Bombyx / genetics* Chromosome Mapping Cloning, Molecular Female Genetic Loci* Genetic Techniques Molecular Sequence Data Mutation Oogenesis / genetics Ovum / cytology Sex Chromosomes / genetics*
IF 2.533
引用数 3
WOS 分野 BIOCHEMISTRY & MOLECULAR BIOLOGY ENTOMOLOGY
リソース情報
カイコ d20 d21 l83 k151 n70