The horse homolog of congenital aniridia conforms to codominant inheritance
The horse homolog of congenital aniridia conforms to codominant inheritance
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DOI：
10.1093/jhered/91.2.93
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发表时间：
2000-03-01
影响因子：
3.1
通讯作者：
Meyers, D
中科院分区：
文献类型：
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作者：
Ewart, SL;Ramsey, DT;Meyers, D
前段发育不良综合征常见于落基山马，有两种不同的眼部表型：(1)起源于颞睫状体或周围视网膜的大囊肿；(2)多种前段异常，包括睫状体囊肿、虹膜发育不全、虹膜角膜粘连和混浊、核性白内障和大角膜。为了确定前段发育不良综合征在马中是否可遗传，我们进行了眼科检查并收集了落基山马谱系的马（n = 516）的系谱信息。对一组已知后代和双亲眼部表型的动物（n = 337）进行的Logistic回归分离分析表明，共显性遗传模型最符合数据。该模型预测了杂交种动物的囊肿表型表达和纯合子动物的多个前段异常。在一个谱系中发现了几例囊肿表型的非外显性。在小眼小鼠和大鼠、先天性无虹膜或前节畸形的人和患有前节发育不良综合征的马身上观察到的遗传和病变之间的密切相似性支持了马的前节发育不良综合征可能与其他物种的类似眼科异常同源的结论。
Anterior segment dysgenesis syndrome occurs frequently in Rocky Mountain horses and has two distinct ocular phenotypes: (1) large cysts originating from the temporal ciliary body or peripheral retina and (2) multiple anterior segment anomalies including ciliary cysts, iris hypoplasia, iridocorneal adhesions and opacification, nuclear cataract, and megalocornea, To determine if anterior segment dysgenesis syndrome is heritable in horses we performed ophthalmic examinations and collected pedigree information on horses (n = 516) in an extended Rocky Mountain horse pedigree, Logistic regressive segregation analysis of a subset of animals (n = 337) in which the ocular phenotypes of progeny and both parents were known indicated that the codominant inheritance model best fit the data. This model predicted cyst phenotype expression in heterorygous animals and multiple anterior segment anomalies in homozygous animals. Several cases of nonpenetrance of the cyst phenotype were detected in one lineage. The close resemblance between the inheritance and lesions observed in Small eye mice and rats, humans with congenital aniridia or anterior segment malformation, and horses with anterior segment dysgenesis syndrome supported the conclusion that anterior segment dysgenesis syndrome in the horse may be homologous to similar ophthalmic anomalies in other species.