Paternal origin of the de novo constitutional t(11;22)(q23;q11)
Paternal origin of the de novo constitutional t(11;22)(q23;q11)
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DOI：
10.1038/ejhg.2010.20
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发表时间：
2010-07-01
影响因子：
5.2
通讯作者：
Kurahashi, Hiroki
中科院分区：
文献类型：
--
作者：
Ohye, Tamae;Inagaki, Hidehito;Kurahashi, Hiroki
宪法t(11;22)(q23;q11)是人类中众所周知的反复非罗伯逊易位。尽管易位通常以随机方式发生，但 t(11;22) 的断点集中在 11q23 和 22q11 上的数百个碱基对内。这些区域的特征是富含 AT 的回文重复序列 (PATRR)，这似乎是基因组不稳定的原因。易位特异性 PCR 以 1/10(4)-10(5) 的频率从健康男性精子中检测到 t(11;22) s，但从未在淋巴母细胞、成纤维细胞或其他人类体细胞系中检测到。这表明 t(11;22) 重排的产生与配子发生有关，尽管雌性生殖细胞尚未经过测试。在这里，我们研究了 8 个从头 t(11;22) 的病例，以利用相关 PATRR 的多态性确定易位的亲本起源。所有八个易位均被发现是父系起源。这一结果暗示了精子特异性产生回文介导的染色体易位的可能新机制。欧洲人类遗传学杂志 (2010) 18, 783-787; doi：10.1038/ejhg.2010.20； 2010 年 2 月 24 日在线发布
The constitutional t(11;22)(q23;q11) is a well-known recurrent non-Robertsonian translocation in humans. Although translocations generally occur in a random fashion, the break points of t(11;22)s are concentrated within several hundred base pairs on 11q23 and 22q11. These regions are characterized by palindromic AT-rich repeats (PATRRs), which appear to be responsible for the genomic instability. Translocation-specific PCR detects de novo t(11;22) s in sperm from healthy males at a frequency of 1/10(4)-10(5), but never in lymphoblasts, fibroblasts or other human somatic cell lines. This suggests that the generation of t(11;22) rearrangement is linked to gametogenesis, although female germ cells have not been tested. Here, we have studied eight cases of de novo t(11;22) to determine the parental origin of the translocation using the polymorphisms on the relevant PATRRs. All of the eight translocations were found to be of paternal origin. This result implicates a possible novel mechanism of sperm-specific generation of palindrome-mediated chromosomal translocations. European Journal of Human Genetics (2010) 18, 783-787; doi: 10.1038/ejhg.2010.20; published online 24 February 2010