Novelli Giuseppe, D'Apice Maria Rosaria
Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
Trends Mol Med. 2003 Sep;9(9):370-5. doi: 10.1016/s1471-4914(03)00162-x.
Gary Rosenberg said of conchologists that they "are often characterized as lumpers or splitters. From one perspective, splitters recognize more species than really exist, and lumpers go around fixing the resulting damage." The recent explosion in the number of identified mutations within the LMNA gene, which encodes two protein products lamins A and C, has allowed the identification of an allelic series of disorders, all caused by mutations within this one gene. Hence, LMNA might be thought of as a "lumper" gene. These results have initiated analysis of the relationship between disease phenotype and gene, and have led to dramatic advances in our knowledge of the dynamic and complex organization of the nuclear architecture.
加里·罗森伯格在谈到贝类学家时说,他们“常常被描述为合并派或细分派。从一个角度来看,细分派识别出的物种比实际存在的更多,而合并派则四处补救由此造成的损害。”最近,编码两种蛋白质产物核纤层蛋白A和C的LMNA基因内已识别出的突变数量激增,这使得人们能够识别出一系列等位基因疾病,所有这些疾病均由这一个基因内的突变引起。因此,LMNA可能被认为是一个“合并”基因。这些结果引发了对疾病表型与基因之间关系的分析,并使我们在了解核结构的动态和复杂组织方面取得了巨大进展。