高分辨率重組圖在遺傳研究中有很多用途?，F(xiàn)有的這種重組圖（它們利用來自HapMap項目的高密度SNP（單核苷酸多態(tài)性）數(shù)據(jù)的聯(lián)系失衡模式）已被證明非常有用,。但它們有一些局限性,，如不能提供關(guān)于不同性別之間和同一性別之內(nèi)重組特征之差別的信息,。在冰島從事deCODE遺傳研究的一個小組,，利用來自超過15000個“父母-子女對”的全基因組SNP數(shù)據(jù)來首次構(gòu)建基于直接觀察到的重組事件的重組圖,，其分辨率達(dá)到10kb,。
他們的數(shù)據(jù)顯示,，不同性別之間存在有趣的重組差別。例如,，在男性中,，重組傾向于對外顯子進(jìn)行“洗牌”，而在女性中它則產(chǎn)生附近基因的新組合,。將這些重組圖與基于聯(lián)系失衡的重組圖進(jìn)行對比,，顯示了在歐洲、非洲和美國的人群之間以前沒有被發(fā)現(xiàn)的差別,。（生物谷Bioon.com）
生物谷推薦英文摘要：
Nature doi:10.1038/nature09525
Fine-scale recombination rate differences between sexes, populations and individuals
Augustine Kong,[email protected] Thorleifsson,Daniel F. Gudbjartsson,Gisli Masson,Asgeir Sigurdsson,Aslaug Jonasdottir,G. Bragi Walters,Adalbjorg Jonasdottir,Arnaldur Gylfason,Kari Th. Kristinsson,Sigurjon A. Gudjonsson,Michael L. Frigge,Agnar Helgason,Unnur Thorsteinsdottir& Kari [email protected]
Meiotic recombinations contribute to genetic diversity by yielding new combinations of alleles. Recently, high-resolution recombination maps were inferred from high-density single-nucleotide polymorphism (SNP) data using linkage disequilibrium (LD) patterns that capture historical recombination events1, 2. The use of these maps has been demonstrated by the identification of recombination hotspots2 and associated motifs3, and the discovery that the PRDM9 gene affects the proportion of recombinations occurring at hotspots4, 5, 6. However, these maps provide no information about individual or sex differences. Moreover, locus-specific demographic factors like natural selection7 can bias LD-based estimates of recombination rate. Existing genetic maps based on family data avoid these shortcomings8, but their resolution is limited by relatively few meioses and a low density of markers.
Here we used genome-wide SNP data from 15,257 parent–offspring pairs to construct the first recombination maps based on directly observed recombinations with a resolution that is effective down to 10 kilobases (kb). Comparing male and female maps reveals that about 15% of hotspots in one sex are specific to that sex. Although male recombinations result in more shuffling of exons within genes, female recombinations generate more new combinations of nearby genes. We discover novel associations between recombination characteristics of individuals and variants in the PRDM9 gene and we identify new recombination hotspots. Comparisons of our maps with two LD-based maps inferred from data of HapMap populations of Utah residents with ancestry from northern and western Europe (CEU) and Yoruba in Ibadan, Nigeria (YRI) reveal population differences previously masked by noise and map differences at regions previously described as targets of natural selection.
