Genetic modulation of the iris transillumination defect: a systems genetics analysis using the expanded family of BXD glaucoma strains
نویسندگان
چکیده
We investigated the contributions of Tyrp1 and Gpnmb to the iris transillumination defect (TID) in five age cohorts of BXD mice. Using systems genetics, we also evaluated the role of other known pigmentation genes (PGs). Mapping studies indicate that Tyrp1 contributes to the phenotype at all ages, yet the TID maps to Gpnmb only in the oldest cohort. Composite interval mapping reveals secondary loci viz. Oca2, Myo5a, Prkcz, and Zbtb20 that modulate the phenotype in the age groups up to 10-13 months. The contributions of Tyrp1 and Gpnmb were highly significant in all age cohorts. Moreover, in young mice, all six gene candidates had substantial interactions in our model. Our model accounted for 71-88% of the explained variance of the TID phenotype across the age bins. These results demonstrate that along with Tyrp1 and Gpnmb, Oca2, Myo5a, Prkcz, and Zbtb20 modulate the TID in an age-dependent manner.
منابع مشابه
Iris transillumination defect and its gene modulators do not correlate with intraocular pressure in the BXD family of mice
PURPOSE Intraocular pressure (IOP) is currently the only treatable phenotype associated with primary open angle glaucoma (POAG). Our group has developed the BXD murine panel for identifying genetic modulators of the various endophenotypes of glaucoma, including pigment dispersion, IOP, and retinal ganglion cell (RGC) death. The BXD family consists of the inbred progeny of crosses between the C5...
متن کاملMarfan Syndrome in an Iranian Family: A Case Series
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons...
متن کاملGenetic Variation within Iranian Iris Species Using Morphological Traits
Iris belongs toIridaceae family and it is monocotyledon. Iris is one of the important ornamental and medicinal plants. 34 iris genotypes (14 species) collected from different provinces of Iran were planted at National Institute of Ornamental Plants (NIOP) Iran. All of the species evaluated for 15 quantitative traits and 30 qualitative traits. Results showed that the highest positive correlation...
متن کاملGonioscopic Features in Patients with Acute and Chronic Angle-Closure Glaucoma
Background: A number of ocular biometric parameters, iris hiotologic and anatomic characters have been suggested as inciting factors for converting patients with narrow angle to angle-closure glaucoma. This study was conducted to determine if there was any goniscopic difference between patients with acute angle-closure glaucoma (AACG) and chronic angle-closure glaucoma (CACG). Methods: ...
متن کاملIridoschisis: high frequency ultrasound imaging. Evidence for a genetic defect?
AIMS To elucidate changes in the anatomy of the anterior chamber associated with iridoschisis, a rare form of iris atrophy, and their potential contribution to angle closure glaucoma. METHODS Both eyes of a 71-year-old woman with bilateral iridoschisis and fibrous dysplasia and her asymptomatic 50-year-old daughter were scanned with a very high frequency (50 MHz) ultrasound system. RESULTS ...
متن کامل