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- Marouli, Eirini, et al.
(författare)
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Rare and low-frequency coding variants alter human adult height
- 2017
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Tidskriftsartikel (refereegranskat)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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- Bonsall, Clive, et al.
(författare)
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Food for Thought : Re-Assessing Mesolithic Diets in the Iron Gates
- 2015
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Ingår i: Radiocarbon. - : Cambridge University Press (CUP). - 0033-8222 .- 1945-5755. ; 57:4, s. 689-699
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Tidskriftsartikel (refereegranskat)abstract
- Stable isotope ratios of carbon, nitrogen, and sulfur in human bone collagen are used routinely to aid in the reconstruction of ancient diets. Isotopic analysis of human remains from sites in the Iron Gates section of the Lower Danube Valley has led to conflicting interpretations of Mesolithic diets in this key region of southeast Europe. One view (Bonsall et al. 1997, 2004) is that diets were based mainly on riverine resources throughout the Mesolithic. A competing hypothesis (Nehlich et al. 2010) argues that Mesolithic diets were more varied with at least one Early Mesolithic site showing an emphasis on terrestrial resources, and riverine resources only becoming dominant in the Later Mesolithic. The present article revisits this issue, discussing the stable isotope data in relation to archaeozoological and radiocarbon evidence.
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- Bonsall, Clive, et al.
(författare)
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The ‘Clisurean’ finds from Climente II cave, Iron Gates, Romania
- 2016
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Ingår i: Quaternary International. - : Elsevier BV. - 1040-6182 .- 1873-4553. ; 423, s. 303-314
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Tidskriftsartikel (refereegranskat)abstract
- Climente II cave, Iron Gates, Romania was excavated in 1968-9. Human remains were recovered from contexts identified as 'Clisurean' (Final Epigravettian), along with ca 6000 chipped stone artifacts, bone tools including awls, arrowheads and a fragment of a harpoon, and shell and animal tooth ornaments. This article presents a re-evaluation of the archaeological finds from Climente II. Osteological analysis of the human remains confirms at least three individuals: a robust, young adult male aged between 18 and 28 years, a second (older) adult, and a neonate. Single-entity C-14 dating of human bone and humanly modified animal bones suggests the Clisurean occupation occurred during the BollingeAllerod warm period. Carbon (delta C-13) and nitrogen (delta N-15) stable isotope analyses highlight the importance of fish in human diet at Climente II. Comparison of the Climente II archaeological inventory with that from later, fisher-hunter-gatherer settlements in the Iron Gates indicates continuity of mortuary ritual, lithic tradition and subsistence practices from the Lateglacial into the Early Holocene.
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