D. Stambolian et al., MAPPING OF THE X-LINKED CATARACT (XCAT) MUTATION, THE GENE IMPLICATEDIN THE NANCE-HORAN-SYNDROME, ON THE MOUSE X-CHROMOSOME, Genomics, 22(2), 1994, pp. 377-380
The Xcat mutation in the mouse, an X-linked inherited disorder, is cha
racterized by the congenital onset of cataracts. The cataracts have mo
rphologies similar to those of cataracts found in the human Nance Hora
n (X-linked cataract dental) syndrome, suggesting that Xcat is an anim
al model for Nance Horan. The Xcat mutation provides an opportunity to
investigate, at the molecular level, the pathogenesis of cataract. As
a first step to cloning the Xcat gene, we report the localization of
the Xcat mutation with respect to known molecular markers on the mouse
X chromosome. Backcross progeny carrying the Xcat mutation were obtai
ned from an interspecific cross. Genomic DNA from each mouse was subje
cted to Southern and PCR analysis to identify restriction fragment len
gth polymorphisms and simple sequence length polymorphisms, respective
ly. Our results refine the location of Xcat to a 2-cM region, eliminat
e several genes from consideration as the Xcat mutation, identify mole
cular probes tightly linked with Xcat, and suggest candidate genes res
ponsible for the Xcat phenotype. (C) 1994 Academic Press, Inc.