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Masayoshi Tachibana, Wakako Adachi, Shigeru Kinoshita, Yasuhito Kobayashi, Yoshio Honma, Hiroshi Hiai, Yoshibumi Matsushima; Androgen-Dependent Hereditary Mouse Keratoconus: Linkage to an MHC Region. Invest. Ophthalmol. Vis. Sci. 2002;43(1):51-57.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To better understand the pathogenesis of hereditary keratoconus, an
inbred line of spontaneous mutant mice with keratoconus-affected
corneas (SKC mice) was established and studied with a multidisciplinary
methods. Using a mutant mouse with corneas having a keratoconical appearance as
the progenitor, an inbred line of SKC mouse was established by repeated
sibling mating. Morphology, cell growth, apoptosis and protein
expression of SKC mouse corneas were examined. Castration of males and
androgen treatment for females were conducted to determine any androgen
dependency of the phenotype. Linkage analysis was conducted to reveal
the responsible or predisposing gene of SKC mouse keratoconus.
results. Corneas of the SKC mouse resemble those of human eyes with keratoconus.
Both are conical and show similar corneal changes, including apoptosis
of keratocytes and increased expression of c-fos protein. The SKC mouse
phenotype was transmitted in an autosomal recessive manner,
although it was observed almost exclusively in males. Intriguingly,
female mice showed the phenotype when injected with testosterone,
whereas male incidence of the phenotype diminished drastically when
mice were castrated. Linkage analysis localized a predisposition locus
to an MHC region on mouse chromosome 17, which includes a locus for the
gene for sex-limited protein (Slp).
conclusions. SKC mouse keratoconus is a potential model for a subset of human
keratoconus, which is a disease entity with heterogeneous pathogeneses.
Alternatively, SKC mouse keratoconus could be a model for other human
or mouse-specific keratopathies.
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