Loss of the SEDL gene product (Sedlin) causes X‐linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family

A 23‐year‐old man was diagnosed as having X‐linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) based on his disproportionately short trunk, short stature, characteristic radiological features of the spine (posterior hump, end plate sclerosis, and disc space narrowing) and the hips (short and thick femoral necks), and positive family history. This Japanese family was found to have an intragenic deletion flanking intron 2 and exon 3 of the SEDL gene that not only included the 5′ untranslated region but also the coding sequence for the first methionine through the 25th alanine. This mutation was present in the proband and his unaffected mother (a heterozygote), but not in an unaffected sister and an unaffected uncle. The nature of the mutation predicted that the SEDL protein (Sedlin) was not produced in the proband, indicating that loss of Sedlin caused SEDT. © 2001 Wiley‐Liss, Inc.     

EBI3与Sedlin蛋白的相互作用

目的初步确定EBI3蛋白与Sedlin之间相互作用的区域。方法构建缺失突变体，利用酵母双杂交系统进行测试。结果正确构建了4个EBI3基因的突变体，将突变体与Sedlin基因共转化酵母细胞后，β-半乳糖苷酶测试表明酵母克隆均为阳性。结论EBI3蛋白的氨基酸54-97区域和166～229区域均可与Sedlin结合。     

脊椎骨骨骺发育不良蛋白Sedlin在细胞中的作用机制探讨

迟发性脊椎骨骨骺发育不良病(SEDT)是一种X连锁隐性遗传病,多发病于儿童期,发病率高,危害大.SEDT的发生与SEDL基因的突变有关,并伴随Sedlin蛋白的性质或数量发生改变,但SEDT发病的分子机制尚不明确.本实验室已有实验结果证实Sedlin可与PAM14结合,因而Sedlin蛋白可能参与细胞生长、衰老等生命活动过程.本文就迟发性脊椎骨骨骺发育不良病发病的分子机制做进一步探讨.     

SEDL基因及其编码蛋白sedlin在小鼠多种组织中表达研究

目的:研究SEDL基因及其编码蛋白sedlin在小鼠多种组织中的表达.方法:采用Real-Time PCR和Western Blot检测小鼠9种组织中SEDL基因和sedlin蛋白表达水平及1、2、4周龄小鼠骨组织中的SEDL基因及sedlin蛋白表达水平.结果:①所检测小鼠9种组织中均有SEDL基因及对应的sedlin蛋白表达.组织中SEDL基因及sedlin蛋白表达量上有统计学差异(P<0.000 1).以骨组织中SEDL基因及sedlin蛋白表达水平高.②不同周龄小鼠骨组织中,SEDL基因及sedlin蛋白的相对表达水平有统计学差异(P<0.01),二者的表达量随年龄变化的趋势相吻合.结论:SEDL基因和sedlin蛋白在所测组织中的表达相一致.二者的表达量在组织间均有差异性,其中以骨组织中表达水平最高.小鼠骨组织中SEDL基因及sedlin蛋白的表达量上有相同时相性改变.