骨发育不良sclerosteosis苏斯特基因产物的损失,结果一本小说胱氨酸knot-containing蛋白质。
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Brunkow我,加德纳JC,范·尼斯J, Paeper BW,之后BR普吕尔年代,Skonier我,赵L, Sabo PJ,傅Y, Alisch老师RS,吉列L,科尔伯特T, Tacconi P,活动D, Hamersma H, Beighton P,穆里根J
骨发育不良sclerosteosis苏斯特基因产物的损失,结果一本小说胱氨酸knot-containing蛋白质。
J哼麝猫。2001年3月,68 (3):577 - 89。Epub 2001 2月9。
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11179006 (在PubMed]
- 文摘
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Sclerosteosis是一种常染色体隐性硬化性骨发育异常,其特征是进步的骨骼生长。影响个人的多数已报告在南非,南非白人人口发病率高的疾病发生由于创始人效应。纯合性映射在南非白人家庭以及对历史的分析重组本地化sclerosteosis位点之间的间隔约2厘米D17S1787 17号染色体和D17S930 q12-q21。在这里,我们报告两个独立的一个小说基因的突变,称为“苏斯特。”Affected Afrikaners carry a nonsense mutation near the amino terminus of the encoded protein, whereas an unrelated affected person of Senegalese origin carries a splicing mutation within the single intron of the gene. The SOST gene encodes a protein that shares similarity with a class of cystine knot-containing factors including dan, cerberus, gremlin, prdc, and caronte. The specific and progressive effect on bone formation observed in individuals affected with sclerosteosis, along with the data presented in this study, together suggest that the SOST gene encodes an important new regulator of bone homeostasis.