Happle R, Phillips R J, Roessner A, Jünemann G
Hum Genet. 1983;63(1):24-7. doi: 10.1007/BF00285392.
X-linked dominant chondrodysplasia punctata is a human gene defect characterized by punctate foci of epiphyseal calcification, cataracts, ichthyosis, and systematized atrophoderma. In a comparative study, the murine X-linked mutant 'bare patches' was found to display strikingly similar skeletal, ocular, and cutaneous anomalies. The human as well as the murine phenotypes occur exclusively in the female sex, apparently because the underlying mutations are lethal for male embryos. In both traits, the cutaneous lesions are arranged in a linear and blotchy pattern reflecting lyonization. The observed similarities constitute strong evidence that the two genes are homologous. The proposed homology is a further example of the evolutionary conservatism of the X-chromosome in mammals.
X连锁显性点状软骨发育不良是一种人类基因缺陷，其特征为骨骺钙化的点状病灶、白内障、鱼鳞病和系统性皮肤萎缩。在一项比较研究中，发现小鼠X连锁突变体“秃斑”表现出惊人相似的骨骼、眼部和皮肤异常。人类和小鼠的表型仅在雌性中出现，显然是因为潜在的突变对雄性胚胎是致命的。在这两种性状中，皮肤病变呈线性和斑点状分布，反映了X染色体失活。观察到的相似性构成了这两个基因同源的有力证据。所提出的同源性是哺乳动物X染色体进化保守性的又一个例子。
