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The developmental impacts of natural selection on human pelvic morphology
Science Advances ( IF 11.7 ) Pub Date : 2022-08-17 , DOI: 10.1126/sciadv.abq4884
Mariel Young 1 , Daniel Richard 1 , Mark Grabowski 2, 3 , Benjamin M Auerbach 4, 5 , Bernadette S de Bakker 6, 7 , Jaco Hagoort 8 , Pushpanathan Muthuirulan 1 , Vismaya Kharkar 1 , Helen K Kurki 9 , Lia Betti 10 , Lyena Birkenstock 1 , Kristi L Lewton 11 , Terence D Capellini 1, 12
Affiliation  

Evolutionary responses to selection for bipedalism and childbirth have shaped the human pelvis, a structure that differs substantially from that in apes. Morphology related to these factors is present by birth, yet the developmental-genetic mechanisms governing pelvic shape remain largely unknown. Here, we pinpoint and characterize a key gestational window when human-specific pelvic morphology becomes recognizable, as the ilium and the entire pelvis acquire traits essential for human walking and birth. We next use functional genomics to molecularly characterize chondrocytes from different pelvic subelements during this window to reveal their developmental-genetic architectures. We then find notable evidence of ancient selection and genetic constraint on regulatory sequences involved in ilium expansion and growth, findings complemented by our phenotypic analyses showing that variation in iliac traits is reduced in humans compared to African apes. Our datasets provide important resources for musculoskeletal biology and begin to elucidate developmental mechanisms that shape human-specific morphology.

中文翻译:


自然选择对人类骨盆形态的发育影响



对两足行走和分娩选择的进化反应塑造了人类骨盆,这种结构与猿类的结构有很大不同。与这些因素相关的形态在出生时就已存在,但控制骨盆形状的发育遗传机制仍然很大程度上未知。在这里,我们确定并描述了人类特有的骨盆形态变得可识别的关键妊娠窗口,因为髂骨和整个骨盆获得了人类行走和出生所必需的特征。接下来,我们使用功能基因组学对这个窗口期间不同骨盆亚元件的软骨细胞进行分子表征,以揭示它们的发育遗传结构。然后,我们发现了有关髂骨扩张和生长的调控序列的古代选择和遗传限制的显着证据,我们的表型分析补充了这一发现,表明与非洲猿相比,人类髂骨性状的变异减少了。我们的数据集为肌肉骨骼生物学提供了重要资源,并开始阐明塑造人类特定形态的发育机制。
更新日期:2022-08-17
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