A partial prehistory of the Southwest Silk Road: Archaeometallurgical networks along the sub-Himalayan corridor

Historical phenomena often have prehistoric precedents, with this paper we investigate the potential for archaeometallurgical analyses and networked data processing to elucidate the progenitors of the Southwest Silk Road in Mainland Southeast Asia and southern China. We present original microstructural, elemental and lead isotope data for 40 archaeological copperbase metal samples, mostly from the UNESCO-listed site of Halin, and lead isotope data for 25 geological copper-mineral samples, also from Myanmar. We combined these data with existing datasets (N=98 total) and compared them to the 1000+ sample late prehistoric archaeometallurgical database available from Cambodia, Laos, Thailand, Vietnam and Yunnan. Lead isotope data, contextualised for alloy, find location and date, were interpreted manually for intra-site, inter-site and inter-regional consistency, which hint at significant multi-scalar connectivity from the late 2nd millennium BC. To test this interpretation statistically, the archaeological lead isotope data were then processed using regionally-adapted productionderived consistency parameters. Complex networks analysis using the Leiden community detection algorithm established groups of artefacts sharing lead isotopic consistency. Introducing the geographic component allowed for the identification of communities of sites with consistent assemblages. The four major communities were consistent with the manually interpreted exchange networks and suggest southern sections of the Southwest Silk Road were active in the late 2nd millennium BC

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

International audiencePeters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of 95 individuals with PA and performed genotyping using a combination of comparative genomic hybridization, whole genome, exome and targeted sequencing of 119 genes associated with ocular development anomalies. Causative genetic defects involving 12 genes and CNVs were identified for 1/3 of patients. Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro-anophthalmia. Four unrelated patients with PA (isolated or with microphthalmia) were carrying pathogenic variants in this gene that was never associated with PA before. Here we described the largest cohort of PA patients ever reported. The genetic bases of PA are still to be explored as genetic diagnosis was unavailable for 2/3 of patients. Nevertheless, we showed here for the first time the involvement of SOX2 in PA, offering new evidence for its role in corneal transparency and anterior segment development