Using Y-chromosome capture enrichment to resolve haplogroup H2 shows new evidence for a two-path Neolithic expansion to Western Europe.

Uniparentally-inherited markers on mitochondrial DNA (mtDNA) and the non-recombining regions of the Y chromosome (NRY), have been used for the past 30 years to investigate the history of humans from a maternal and paternal perspective. Researchers have preferred mtDNA due to its abundance in the cells, and comparatively high substitution rate. Conversely, the NRY is less susceptible to back mutations and saturation, and is potentially more informative than mtDNA owing to its longer sequence length. However, due to comparatively poor NRY coverage via shotgun sequencing, and the relatively low and biased representation of Y-chromosome variants on capture assays such as the 1240 k, ancient DNA studies often fail to utilize the unique perspective that the NRY can yield. Here we introduce a new DNA enrichment assay, coined YMCA (Y-mappable capture assay), that targets the "mappable" regions of the NRY. We show that compared to low-coverage shotgun sequencing and 1240 k capture, YMCA significantly improves the mean coverage and number of sites covered on the NRY, increasing the number of Y-haplogroup informative SNPs, and allowing for the identification of previously undiscovered variants. To illustrate the power of YMCA, we show that the analysis of ancient Y-chromosome lineages can help to resolve Y-chromosomal haplogroups. As a case study, we focus on H2, a haplogroup associated with a critical event in European human history: the Neolithic transition. By disentangling the evolutionary history of this haplogroup, we further elucidate the two separate paths by which early farmers expanded from Anatolia and the Near East to western Europe.

Congenital syphilis or mercury treatment: dental alterations in a twelfth- or thirteenth-century child from Medinaceli, Soria, Spain.

Syphilis, together with its variant congenital syphilis, is a disease caused by Treponema pallidum subsp. pallidum. This paper documents possible new skeletal evidence for congenital syphilis from the Medieval Era (twelfth and thirteenth centuries CE) burial site of Medinaceli in the Province of Soria in North-Central Spain. What is involved is dental alteration due to congenital syphilis, mercury treatment, or a combination of both. This study focuses on the hypoplastic dental changes observed in a child approximately eight years of age. Only a fragmented skull with left maxilla and the left side of the mandible were preserved. Macroscopic analysis, X-rays, computerized tomography (CT) and mercury detection analysis by inductively coupled plasma mass spectrometry (ICP-MS) techniques were used to observe dental abnormalities. In addition to extensive caries in the upper second deciduous molar, pulpo-alveolar lesions and facial alterations were observed. The absence of the rest of the skeleton tends to make a diagnosis of congenital syphilis difficult. However, the dental stigmata observed do permit a reasonable diagnosis.