The horse homolog of congenital aniridia conforms to codominant inheritance

Journal of Heredity

Volumn 91, Issue 2, 2000, Pages 93-98

  Ewart, Susan L ^a   Ramsey, D T ^a   Xu, J ^b   Meyers, D ^b  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b UNIVERSITY OF MARYLAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; ANTERIOR EYE SEGMENT; ARTICLE; CATARACT; CILIARY BODY; CODOMINANCE; HORSE; NONHUMAN; PEDIGREE; PRIORITY JOURNAL;

ANIMALIA; EQUIDAE; EQUUS CABALLUS; MAMMALIA;

EID: 0034056348     PISSN: 00221503     EISSN: None     Source Type: Journal    
DOI: 10.1093/jhered/91.2.93     Document Type: Article

References (24)

1. Bonney GE, 1986. Regressive logistic models for familial disease and other binary traits. Biometrics 42:611-625.
2. Churchill A and Booth A, 1996. Genetics of aniridia and anterior segment dysgenesis. Br J Ophthalmol 80:669-673.
3. Cook CS, 1989. Experimental models of anterior segment dysgenesis. Ophthalmol Paediatr Genet 10:33-46.
4. Elsas FJ, Maumenee IH, Kenyon RK. and Yoder F, 1977. Familial aniridia with preserved ocular function. Am J Ophthalmol 83:718-724.
5. Eriksson K, 1955. Hereditary aniridia with secondary cataract in horses. Nord Vet Med 7:773-793.
6. Fujiwara M, Uchida T, Osumi-Yamashita N, and Eto K, 1994. Uchida rat (rSey): a new mutant rat with craniofacial abnormalities resembling those of the mouse Sey mutant. Differentiation 57:31-38.
7. Glaser T, Jepeal L, Edwards JG, Young R, Favor J, and Maas R, 1994. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 7:463-471.
8. Glaser T, Walton DS, Cai J, Epstein JA, Jepeal L, and Maas RL, 1995. PAX6 gene mutations in aniridia. In: Molecular genetics of ocular disease (Wiggs JL, ed). New York: Wiley-Liss; 51-82.
9. Grove JH, Shaw MW, and Bourque G, 1961. A family study of aniridia. Arch Ophthalmol 65:81-94.
10. Gruss P and Walther C, 1992. Pax in development. Cell 69:719-722.
11. Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletyev D, Fekete G, and van Heyningen V, 1993. PAX6 mutation in aniridia. Hum Mol Genet 2:915-920.
12. Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, and van Heyningen V, 1994. Mutations at the PAX6 locus are found in heterozygous anterior segment malformations including Peter's anomaly. Nat Genet 6:168-173.
13. Hill RE, Favor J, Hogan BLM, Ton CC, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, and van Heyningen V, 1991. Mouse Small eye results from mutations in a paired-like homeobox-containing gene. Nature 354: 522-525.
14. Hodgson SV and Saunders KE, 1980. A probable case of the homozygous condition of the aniridia gene. J Med Genet 17:478-480.
15. Hogan BLM, Horsburgh G, Cohen J, Hetherington CM, Fisher G, and Lyon MF, 1986. Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. J Embryol Exp Morphol 97:95-110.
16. Holmström GE, Reardon WP, Baraitser M, Elston JS, Taylor DS, 1991. Heterogeneity in dominant anterior segment malformations. Br J Ophthalmol 75:591-597.
17. Joyce JR, Martin JE, Storts RW, and Skow L, 1990. Iridial hypoplasia (aniridia) accompanied by limbic dermoids and cataracts in a group of related quarter horses. Equine Vet J Suppl 10:26-28.
18. Matsuo T, Osumi-Yamashita N, Noji S, Ohuchi H, Koyama E, Myokai F, Matsuo N, Taniguchi S, Doi H, Iseki S, Ninomiya Y, Fujiwara M, Watanabe T, and Eto K, 1993. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nat Genet 3:299-304.
19. Nelson LB, Spaeth GL. Nowinski TS, Margo CE, and Jackson L, 1984. Aniridia. A review. Surv Ophthalmol 28:621-642.
20. Ramsey DT, Ewart SL, Render JA, Cook CS, Latimer CA, 1999. Congenital ocular abnormalities of Rocky Mountain horses. Vet Ophthalmol 2:47-59.
21. Rudolph JA, Spier SJ, Byrns G, Rojas CV, Bernoco D, Hoffman EP, 1992. Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nat Genet 2:144-147.
22. SAGE, 1994. Statistical Analysis for Genetic Epidemiology (release 2.2). Available from the Department of Biometry and Genetics, LSU Medical Center, New Orleans, LA.
23. Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van Heyningen V, and Hastie ND, 1996. Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86:71-82.
24. Walther C and Gruss P, 1991. Pax-6, a murine paired box gene, is expressed in the developing CNS. Development 113:1435-1449.