Chevillard C, Le Paslier D, Passage E, Ougen P, Billault A, Boyer S, Mazan S, Bachellerie J P, Vignal A, Cohen D
U242 Marseille, France.
Hum Mol Genet. 1993 Aug;2(8):1235-43. doi: 10.1093/hmg/2.8.1235.
The juxtacentromeric region of the human chromosome 17 short arm (17p11.2-p12) contains genes involved in the Charcot-Marie-Tooth type 1A disease (CMT1A) and the Smith-Magenis syndrome (SMS). CMT1A is associated with a duplication of a short segment whereas SMS is linked to microdeletions, extending toward the centromere. We describe the construction and analysis of a 5 Mb YAC contig spanning the CMT1A duplicated segment and the distal part of four SMS microdeletions. We concluded that the YAC contig contains about 1Mb of genomic DNA which is deleted in the four SMS patients analysed. Moreover two YACs contain both STS deleted in SMS (U3) and STS duplicated in CMT1A (5H5), but the proximal breakpoint associated with the CMT1A duplication is not the same as the distal SMS breakpoint we studied. Finally we located five new STS in SMS deletion. Two of them, a microsatellite (D17S805(23)) and the gene coding for small nuclear RNA U3, have been localized in the contig we described. We may also note that snU3 is the first expressed sequence localized in an SMS deletion so far. The possible participation of this gene in the SMS phenotype is discussed.
人类17号染色体短臂（17p11.2 - p12）的近着丝粒区域包含与1A型腓骨肌萎缩症（CMT1A）和史密斯-马吉尼斯综合征（SMS）相关的基因。CMT1A与一小段片段的重复有关，而SMS则与向着丝粒延伸的微缺失相关。我们描述了一个跨越CMT1A重复片段和四个SMS微缺失远端部分的5 Mb YAC重叠群的构建和分析。我们得出结论，该YAC重叠群包含约1 Mb在分析的四名SMS患者中缺失的基因组DNA。此外，两个YAC既包含在SMS中缺失的STS（U3），也包含在CMT1A中重复的STS（5H5），但与CMT1A重复相关的近端断点与我们研究的远端SMS断点不同。最后，我们在SMS缺失区域定位了五个新的STS。其中两个，一个微卫星（D17S805(23)）和编码小核RNA U3的基因，已定位在我们描述的重叠群中。我们还可以注意到，snU3是迄今为止定位在SMS缺失区域的第一个表达序列。本文讨论了该基因可能参与SMS表型的情况。
