| RRC ID |
33187
|
| Author |
Fujii T, Abe H, Kawamoto M, Banno Y, Shimada T.
|
| Title |
Positional cloning of the sex-linked giant egg (Ge) locus in the silkworm, Bombyx mori.
|
| Journal |
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.
|
| Volume |
24(2)
|
| Pages |
213-21
|
| Published |
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
|
| Times Cited |
3
|
|
WOS Category
|
BIOCHEMISTRY & MOLECULAR BIOLOGY
ENTOMOLOGY
|
| Resource |
| Silkworms |
d20
d21
l83
k151
n70 |
