Elucidation of the developmental mechanism of ovarian mature cystic teratomas using B allele-frequency plots of single nucleotide polymorphism array data
Elucidation of the developmental mechanism of ovarian mature cystic teratomas using B allele-frequency plots of single nucleotide polymorphism array data
复制标题
DOI：
10.1002/gcc.1
复制
发表时间：
2018-08-01
影响因子：
3.7
通讯作者：
Shozu, Makio
中科院分区：
文献类型：
--
作者：
Usui, Hirokazu;Nakabayashi, Kazuhiko;Shozu, Makio
卵巢成熟囊性畸胎瘤（MCT）起源于减数分裂后的生殖细胞。常规方法如核型分析或短串联重复序列多态性分析可用于更好地对MCT进行分类，尽管此类数据可能不足。本研究的目的是利用单核苷酸多态性阵列数据的B等位基因频率（BAF）图来阐明卵巢MCT的起源。MCT可以根据着丝粒和远端染色体区域的接合性进行分类。我们使用BAF图数据评估了38例MCT标本的所有染色体的接合性。BAF图用于确定全基因组上的纯合和杂合区域。从理论上讲，起源于两个卵子融合的MCT（以前称为V型MCT）应具有混合的着丝粒接合性模式，即在着丝粒区域中杂合和纯合区域的组合。然而，本研究中没有MCT符合该标准。我们确定了13例I型MCT、14例II型MCT和11例III型MCT。此外，BAF图有助于构建I型和II型MCT全基因组水平的重组图谱。没有交叉，尤其是在短臂中，导致减数分裂I失败，导致I型MCT。所有臂的交叉可能保证人类卵母细胞减数分裂的正常进行。总之，我们的研究结果表明，BAF图可以阐明MCT的发育机制，并进一步作为有用的分析工具，分析人类卵母细胞减数分裂，和相关的畸变。
Ovarian mature cystic teratomas (MCTs) originate from post-meiotic germ cells. Conventional methods such as karyotyping or short tandem repeat-polymorphism analysis may be used to better classify MCTs, although such data would be insufficient. The aim of this study was to elucidate the origin of ovarian MCTs using B allele-frequency (BAF) plots of single nucleotide polymorphism array data. MCTs can be classified in terms of the zygosity of the centromeres and distal chromosome regions. We evaluated the zygosity of all chromosomes from 38 MCT specimens using BAF plot data. BAF plots were used to determine the homozygous and heterozygous regions over the whole genome. Theoretically, MCTs originated from the fusion of two ova (previously referred to as type V MCTs) should have a mixed pattern of centromeric zygosity, that is, a combination of heterozygous and homozygous regions in the centromeric regions. However, no MCTs in this study met this criterion. We identified 13 type I MCTs, 14 type II MCTs, and 11 type III MCTs. In addition, BAF plots facilitated the construction of recombination maps at the whole-genome level for type I and II MCTs. No crossover, especially in the short arms, contributed to the failure of meiosis I, resulting in type I MCTs. Crossover in all arms might assure the normal progress of meiosis in human oocytes. In conclusion, our findings indicate that BAF plots can elucidate the developmental mechanism of MCTs, and further serve as useful analytical tools for analyzing human oocyte meiosis, and related aberrations.