Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P10721 (
c-kit
)
6,575
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The body coloration of animals is due to pigment cells derived from neural crest cells, which are multipotent and differentiate into diverse cell types. Medaka (
Oryzias latipes
) possesses four distinct types of pigment cells known as melanophores, xanthophores, iridophores, and leucophores. The
few melanophore
(
fm
) mutant of medaka is characterized by reduced numbers of melanophores and leucophores. We here identify
kit-ligand a
(
kitlga
) as the gene whose mutation gives rise to the
fm
phenotype. This identification was confirmed by generation of
kitlga
knockout medaka and the findings that these fish also manifest reduced numbers of melanophores and leucophores and fail to rescue the
fm
mutant phenotype. We also found that expression of
sox5
,
pax7a
,
pax3a
, and
mitfa
genes is down-regulated in both
fm
and
kitlga
knockout medaka, implicating
c-Kit
signaling in regulation of the expression of these genes as well as the encoded transcription factors in pigment cell specification. Our results may provide insight into the pathogenesis of
c-Kit
-related pigmentation disorders such as
piebaldism
in humans, and our
kitlga
knockout medaka may prove useful as a tool for drug screening.
...
PMID:Identification of
kit-ligand a
as the Gene Responsible for the Medaka Pigment Cell Mutant
few melanophore
. 3175 30
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