Naturalis Biodiversity Center, Division Vertebrate Evolution, Development and Ecology, Darwinweg 2, Leiden 2333 CR, The Netherlands.
CNRS, Institute of Ecology and Environmental Sciences, Department of Evolutionary Ecology, Paris, Sorbonne University, Paris 75005, France.
Proc Natl Acad Sci U S A. 2024 Sep 24;121(39):e2406670121. doi: 10.1073/pnas.2406670121. Epub 2024 Sep 16.
Mammals as a rule have seven cervical vertebrae, a number which remains remarkably conserved. Occasional deviations of this number are usually due to the presence of cervical ribs on the seventh vertebra, indicating a homeotic transformation from a cervical rib-less vertebra into a thoracic rib-bearing vertebra. These transformations are often associated with major congenital abnormalities or pediatric cancers (pleiotropic effects) that are, at least in humans, strongly selected against. Based on data from Late Pleistocene mammoths () and woolly rhinoceroses () from the North Sea, we hypothesized that high incidences of cervical ribs in declining populations are due to inbreeding and/or adverse conditions impacting early pregnancies. In this study, we investigated the incidence of cervical ribs in an extinct Late Pleistocene megaherbivore, giant deer () from Ireland and in the extant highly inbred Père David deer () and in twenty other extant species. We show that the incidence of cervical ribs is exceptionally high in both the Irish giant deer and the Père David deer and much higher than in extant outbred deer. Our data support the hypothesis that inbreeding and genetic drift increase the frequencies of maladaptive alleles in populations at risk of extinction. The high incidence of cervical ribs indicates a vulnerable condition, which may have contributed to the extinction of megaherbivore species in the Late Pleistocene. We argue that cervical rib frequency may be a good proxy for extinction risk in inbred populations.
哺乳动物通常有七个颈椎,这个数量非常保守。偶尔出现的这种数量的偏差通常是由于第七颈椎上存在颈肋,表明从无颈肋的椎骨到具有胸肋的椎骨的同源转化。这些转化通常与重大先天性异常或儿科癌症(多效性效应)有关,这些癌症(至少在人类中)受到强烈选择。基于来自北海晚更新世猛犸象(Mammuthus primigenius)和长毛犀牛(Coelodonta antiquitatis)的数据,我们假设衰退种群中高发的颈肋是由于近亲繁殖和/或影响早期妊娠的不利条件所致。在这项研究中,我们调查了灭绝的晚更新世巨型食草动物爱尔兰巨型鹿(Megaloceros giganteus)以及现存高度近亲繁殖的麋鹿(Elaphurus davidianus)和其他二十种现存物种中颈肋的发生率。我们表明,爱尔兰巨型鹿和麋鹿的颈肋发生率异常高,远高于现存的非近亲繁殖鹿。我们的数据支持这样的假设,即近亲繁殖和遗传漂变增加了处于灭绝风险中的种群中适应不良等位基因的频率。高发的颈肋表明了一种脆弱的状况,这可能导致了晚更新世巨型食草动物物种的灭绝。我们认为,颈肋频率可能是近亲繁殖种群灭绝风险的一个很好的替代指标。