Good Deborah J, Kocher Matthew A
Department of Human Nutrition, Foods, and Exercise, Virginia Tech, Blacksburg, VA 24061, USA.
Translational Biology, Medicine and Health Graduate Program, Virginia Tech, Blacksburg, VA 24061, USA.
Genes (Basel). 2017 Nov 30;8(12):358. doi: 10.3390/genes8120358.
The small nucleolar RNA locus () is contained within the long noncoding RNA host gene on human chromosome 15q11-q13. The locus is a cluster of 28 or more small nucleolar (sno) RNAs; C/D box (SNORDs). Individual RNAs within the cluster are tandem, highly similar sequences, referred to as , , etc., with the entire set referred to as @. There are also related loci on other chromosomes, and these additional loci are conserved among primates. Inherited chromosomal 15q11-q13 deletions, encompassing the @ locus, are causative for the paternally-inherited/maternally-imprinted genetic condition, Prader-Willi syndrome (PWS). Using in silico tools, along with molecular-based and sequenced-based confirmation, phylogenetic analysis of the @ locus was performed. The consensus sequence for the SNORD116@ snoRNAs from various species was determined both for all the snoRNAs, as well as those grouped using sequence and location according to a human grouping convention. The implications of these findings are put in perspective for studying in patients with inherited Prader-Willi syndrome, as well as model organisms.
小核仁RNA基因座（）包含在人类染色体15q11 - q13上的长链非编码RNA宿主基因内。该基因座是一个由28个或更多小核仁（sno）RNA组成的簇；C/D盒（SNORDs）。簇内的单个RNA是串联的、高度相似的序列，称为、等，整个集合称为@。在其他染色体上也存在相关的基因座，并且这些额外的基因座在灵长类动物中是保守的。包含@基因座的15号染色体q11 - q13区域的遗传性缺失是父系遗传/母系印记的遗传疾病普拉德 - 威利综合征（PWS）的病因。利用计算机工具，结合基于分子和基于测序的验证，对@基因座进行了系统发育分析。确定了来自各种物种的SNORD116@ snoRNAs的共有序列，包括所有的snoRNAs，以及根据人类分组惯例按序列和位置分组的那些snoRNAs。这些发现的意义对于研究遗传性普拉德 - 威利综合征患者以及模式生物中的情况具有参考价值。
