Setó-Salvia Núria, Sánchez-Quinto Federico, Carbonell Eudald, Lorenzo Carlos, Comas David, Clarimón Jordi
IIB Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Área de Prehistoria, Universitat Rovira i Virgili (URV), Tarragona, Spain Institut Català de Paleoecologia Humana i Evolució Social (IPHES), Tarragona, Spain.
Hum Biol. 2012 Dec;84(6):633-40. doi: 10.3378/027.084.0605.
The polymorphic inversion on 17q21, that includes the MAPT gene, represents a unique locus in the human genome characterized by a large region with strong linkage disequilibrium. Two distinct haplotypes, H1 and H2, exist in modern humans, and H1 has been unequivocally related to several neurodegenerative disorders. Recent data indicate that recurrent inversions of this genomic region have occurred through primate evolution, with the H2 haplotype being the ancestral state. Neandertals harbored the H1 haplotype; however, until now, no data were available for the Denisova hominin. Neandertals and Denisovans are sister groups that share a common ancestor with modern humans. We analyzed the MAPT sequence and assessed the differences between modern humans, Neandertals, Denisovans, and great apes. Our analysis indicated that the Denisova hominin carried the H1 haplotype, and the Neandertal and Denisova common ancestor probably shared the same subhaplotype (H1j). We also found 68 intronic variants within the MAPT gene, 23 exclusive to Denisova hominin, 6 limited to Neandertals, and 24 exclusive to present-day humans. Our results reinforce previous data; this suggests that the 17q21 inversion arose within the modern human lineage. The data also indicate that archaic hominins that coexisted in Eurasia probably shared the same MAPT subhaplotype, and this can be found in almost 2% of chromosomes from European ancestry.
17号染色体长臂21区（17q21）上的多态性倒位，其中包括微管相关蛋白tau（MAPT）基因，是人类基因组中的一个独特位点，其特征是存在一个具有强连锁不平衡的大区域。现代人类中存在两种不同的单倍型，H1和H2，并且H1已明确与几种神经退行性疾病相关。最近的数据表明，该基因组区域的反复倒位在灵长类动物进化过程中就已发生，H2单倍型是祖先状态。尼安德特人携带H1单倍型；然而，到目前为止，尚无关于丹尼索瓦人的数据。尼安德特人和丹尼索瓦人是姐妹群体，与现代人类拥有共同祖先。我们分析了MAPT序列，并评估了现代人类、尼安德特人、丹尼索瓦人和大猩猩之间的差异。我们的分析表明，丹尼索瓦人携带H1单倍型，尼安德特人和丹尼索瓦人的共同祖先可能共享相同的亚单倍型（H1j）。我们还在MAPT基因内发现了68个内含子变体，其中23个是丹尼索瓦人特有的，6个仅限于尼安德特人，24个是现代人类特有的。我们的结果强化了先前的数据；这表明17q21倒位发生在现代人类谱系中。数据还表明，在欧亚大陆共存的古代人类可能共享相同的MAPT亚单倍型，在欧洲血统的染色体中，近2%可发现这种情况。
