身高的遗传学新研究——高个子vs矮个子
The Tall And The Short Of It: New Research Adds To Growing Body Of Knowledge Of Genetics Of HeightThe results, published together with two independent studies online today in the journal Nature Genetics, mean that scientists now know of dozens of genes and genetic regions that influence our height. This provides scientists with a fascinating insight into how the body grows and develops normally and may shed light on diseases such as osteoarthritis and cancer.
自然遗传学杂志今日在线发表了一些研究结果,这些结果是和两个独立的研究一起发表的,结果表明科学家们目前已经了解到影响我们身高的数十个基因和基因区域。这让科学家们能洞察身体如何正常生长发育,也可能使一些疾病如骨关节炎和癌症更为明了。
Unlike a number of other body size characteristics such as obesity, which is caused by a mix of genetic and environmental factors (so called \"nature and nurture\"), 90 per cent of normal variation in human height is due to genetic factors rather than, for example, diet. Last year, a team of researchers including Dr Tim Frayling from the Peninsula Medical School, Exeter, and Professor Mark McCarthy from the University of Oxford identified the first common gene variant to affect height, though it made a difference of only 0.5cm.
身高不像身体其他特征如肥胖(是由基因和环境因素共同引起,即所谓的遗传与营养),人类身高90%正常变异主要是由遗传而非饮食造成的。去年,一个包括半岛医学院Dr Tim Frayling和牛津大学Exeter与Mark McCarthy教授在内的研究小组识别了第一个影响身高的变异基因,尽管这个基因只能引起0.5厘米的差别。
Now, using DNA samples from over 30,000 people, many taken from the Wellcome Trust Case Control Consortium -- the largest study ever undertaken into the genetics underlying common diseases -- and from the Cambridge Genetics of Energy Metabolism (GEM) consortium and the CoLaus Study in Switzerland, the researchers have identified 20 loci (regions of genetic code), common variations of which influence adult height.
目前通过来自Wellcome信任病例对照协会——曾经从事过普通疾病遗传学研究和来自剑桥遗传学能量代谢协会及瑞士CoLaus研究的三万多人的DNA样品,研究人员已经识别了20个位点(基因编码区),这些公共变异影响成人身高。
\"The number and variety of genetic regions that we have found show that height is not just caused by a few genes operating in the long bones\" says Dr Frayling. \"Instead, our research implicates genes that could shed light on a whole range of important biological processes.
Dr Frayling说:“我们发现的基因区域的数量和变异表明了身高不仅仅是由一些控制长骨生长的基因引起的,相反,我们的研究提示了基因可能会影响重要的生物学进展的全程。”
\"By identifying which genes affect normal growth, we can begin to understand the processes that lead to abnormal growth -- not just height disorders but also tumour growth, for example.\"
“通过识别哪些基因影响正常生长,我们开始明白导致异常生长的过程——例如,不但是身高障碍而且还有肿瘤生长的过程。”
Half of the new loci identified by Dr Frayling and colleagues contain genes whose functions are well documented. Some help regulate basic cell division, which may have implications for cancer research: unregulated cell division can lead to the growth of tumours. Other genes are implicated in cell-to-cell signalling, an important process in the early development of embryos in the womb. Yet others are so-called \"master regulators\", acting as switches to turn genes elsewhere in the genome on or off.
Dr Frayling及其同事发现的新位点中有一半包含已经证实过功能的基因。这些基因中有一些有助于调节基本的细胞分裂,这可能为癌症的研究提供线索:未调节的细胞分裂可能会导致肿瘤的生长。另一些基因提示细胞与细胞之间的信号转导,这在子宫内胚胎发育早期是一个重要过程。还有一些基因是所谓的“主要调节子”,扮演启动或关闭基因组其他基因的角色。
One locus in particular is also implicated in osteoarthritis, the most common form of arthritis involving the effects of wear and tear on the body's structures. This locus reinforces a similar link identified by a previous study, and may be involved in the growth of cartilage.
尤其是骨关节炎中的一个位点提示大多数关节炎所涉及的身体结构的磨损和撕裂效应的共同形式。这个位点增强了以往研究中识别的一个类似的联系,可能也涉及到软骨的生长。
However, of the twenty loci identified by Dr Frayling and colleagues, half contain genes about which little or nothing is known. The researchers compare these findings to their work last year which identified the first common gene for obesity, the FTO gene. Even though the gene has been shown without a doubt to be influence body size, its role is still unclear.
然而,Dr Frayling及其同事发现的20个位点中有一半还未知或者知之甚少。研究人员把这些结果和他们去年识别的第一个肥胖基因FTO相比,尽管这个基因影响身体大小是毫无疑问的,但是它的作用还不清楚。
\"There may be more than a hundred genes which affect our height, many of which will work in surprising or unpredictable ways,\" says Dr Mike Weedon, lead author on the paper. \"The challenge now for us is to understand how they influence growth in the body. This could open up new avenues for treating a range of diseases.\"
论文的主要作者Dr Mike Weedon说:“可能有不止一百个影响我们身高的基因,许多都将以令人惊讶的或者难以预见的方式发挥作用,这些挑战对于我们来说就是要明白他们是怎么影响我们身体生长的。这也将为治疗一系列的疾病开启新的途径。”
ScienceDaily (Apr. 7, 2008) — Scientists are beginning to develop a clearer picture of what makes some people stand head and shoulders above the rest. A team of researchers who last year identified the first common version of a gene influencing height has now identified a further twenty regions of the genome which together can make a height difference of up to 6cm.
科学日报(2008.4.7)——科学家们正在研究究竟是什么使得一些人的身高高人一等。一组于去年识别第一个影响身高的基因的研究人员已经进一步识别了基因组的20个区域,这些区域共同发挥作用可使身高有多达6厘米的差异。
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