Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated with additional congenital abnormalities. In this study, we investigated the genetic defect in a case of autosomal recessive congenital generalized hypertrichosis terminalis (CGHT) (OMIM135400) using whole-exome sequencing. We identified a single base pair substitution in the 5′ donor splice site of intron 32 in the ABC lipid transporter gene ABCA5 that leads to aberrant splicing of the transcript and a decrease in protein levels throughout patient hair follicles. The homozygous recessive disruption of ABCA5 leads to reduced lysosome function, which results in an accumulation of autophagosomes, autophagosomal cargos as well as increased endolysosomal cholesterol in CGHT keratinocytes. In an unrelated sporadic case of CGHT, we identified a 1.3 Mb cryptic deletion of chr17q24.2-q24.3 encompassing ABCA5 and found that ABCA5 levels are dramatically reduced throughout patient hair follicles. Collectively, our findings support ABCA5 as a gene underlying the CGHT phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth

Sacrifice as the Ideal Hunt: A Cosmological Explanation for the Origin of Reindeer Domestication

This article originally appeared in English as "Sacrifice as the Ideal Hunt: A Cosmological Explanation for the Origin of Reindeer Domestication" in Journal of the Royal Anthropological Institute (2015) 21:1–23 doi: 10. 1111/1467-9655.12142. Reprinted in Russian by permission of John Wiley & Sons, Inc. 1467–9655.12142). Перевод публикуется с разрешения Издательства John Wiley & Sons, Inc. (Reprinted by permission of John Wiley & Sons, Inc.)На северо-востоке Сибири обнаруживаются удивительные параллели между космологическими представлениями охотников и оленеводов. Что это может дать нам для понимания перехода от охоты к пасторализму? В данной статье выдвигаются положения о структурной идентичности охоты и жертвоприношения и о доместикации северного оленя как следствии стремления охотников посредством жертвоприношения контролировать непредсказуемые вариации в процессе охоты. Охотник может практиковать свой этос "доверия" в отношениях с добычей только с помощью очень четко контролируемых ритуальных действ. Мы описываем два таких действа: знаменитый «медвежий праздник» в регионе Амурского Залива и праздник Священного Огня у эвенов. Оба являются отражением общей логики, в рамках которой жертвоприношение функционирует как идеальная охота. Животное при этом вовлекается в отношения не доминирования, но доверия, и в то же время подвергается процессу приручения. Поэтому мы высказываем предположение о том, что корни доместикации оленя могут быть обнаружены в первую очередь не в моделях экологической или экономической адаптации, а скорее в космологии

Sacrifice and the ideal hunt: A cosmological explanation for the origin of reindeer domestication

The Siberian Northeast shows striking parallels between the cosmologies of hunters and reindeer herders. What may this tell us about the transformation from hunting to pastoralism? This article argues for a structural identity between hunting and sacrifice, and for the domestication of the reindeer as the result of hunters’ efforts to use sacrifice to control the accidental variables of the hunt. Hunters can practise their ethos of ‘trust’ with prey only through highly controlled ritual enactments. We describe two: the famous bear festival of the Amur Gulf region and the consecrated reindeer of the Eveny. Both express the same overall logic by which sacrifice functions as an ideal hunt. The animal is involved in a relation not of domination but of trust, while also undergoing a process of taming. We therefore suggest that the origin of the reindeer’s domestication may be found not primarily in patterns of ecological or economic adaptations, but rather in cosmology