Nat Genet:基因发现揭示了与侏儒症相关的生长缺陷

2017-02-15 MEI 生物360

在 2 月 13 日的《自然遗传学 》一项研究中,由伯明翰大学领导的一个国际科学团队研究了来自世界各地超过 250 人的遗传信息,其中包括小头侏儒症:一种以矮小身材和头部尺寸减小为特征的疾病。他们发现,29 个个体有一个称为 DONSON 的基因的错误版本。


一项新的研究显示特定基因的错误如何导致与罕见的侏儒症相关的生长缺陷。

在 2 月 13 日的《自然遗传学 》一项研究中,由伯明翰大学领导的一个国际科学团队研究了来自世界各地超过 250 人的遗传信息,其中包括小头侏儒症:一种以矮小身材和头部尺寸减小为特征的疾病。他们发现,29 个个体有一个称为 DONSON 的基因的错误版本。

对在实验室中生长的细胞的测试表明,当细胞分裂和生长时,该基因在确保 DNA 被正确复制中起关键作用。来自患有 DONSON 基因突变的患者的细胞难以有效地复制其 DNA 并保护其免受不受控的损伤,最终导致典型的小头侏儒症的生长缺陷。这项研究提出了对遗传性小头症患者更准确诊断的潜力,此外还提供了如何引起类似罕见遗传性疾病的洞察。

来自伯明翰大学癌症与基因组科学研究所的 Grant Stewart 教授说:“尽管 DNA 复制是一个对生命至关重要的过程,但仍然有很多是我们不知道的。 这项研究揭示了 DNA 复制的机制,以及当这个过程出错时对人类健康的影响。”

爱丁堡大学遗传与分子医学研究所的 Andrew Jackson 教授说:“将 DONSON 鉴定为小头畸形基因,为我们在 DNA 复制过程中如何保护基因组提供了新的见解,只有通过密切合作以及来自世界各国家庭,临床医生和科学家的贡献才能实现。”

来自英国国家健康研究所(NIHR)的生物医学研究中心的 Christopher Mathew 教授补充说:“对于如何解开罕见人类疾病的遗传学,这是一个很好的例子,可以提供深刻的洞察基本生物过程。”

来自费萨尔国王专科医院和研究中心的 Fowzan Alkuraya 教授还补充说:“DONSON 的故事是一个显着的例子:基本的细胞功能的缺失如何导致从胚胎致死到脑和身体的生长缺陷特征取决于突变的严重程度的一个表型。 它也提醒了棘手的深剪接突变对人类疾病的贡献。”

参考资料:

1.Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
2.Gene discovery sheds light on growth defects linked to dwarfism

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    2017-05-16 liye789132251
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    2017-10-11 canlab
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    2017-05-16 cy0324
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    2017-02-24 jjzouyan

    真是又发现了一个机制

    0

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Nature:侏儒症,或有药可医

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