Sexing Viking Age horses from burial and non-burial sites in Iceland using ancient DNA

© 2018 The Authors Horses are the most common grave goods found in Icelandic Viking Age graves. Horse skeletons have previously been sexed based on pelvis shape and the presence of canine teeth in male horses over 4–5 years of age. Morphological data has shown that all horses from Icelandic burials that were amenable to sexing were male. Yet the use of morphological methods to determine sex is problematic since they rely on finding a well-preserved pelvis and/or robust canine teeth. Furthermore, quantitative data underlying the features of the horse pelvis used for sexing is lacking and canine teeth have been reported to occur in mares. In this study we build upon and extend recently developed methodologies to make use of shotgun sequencing of ancient DNA (aDNA) for molecular sexing of Viking Age horse remains. With minimal sequencing effort we identified the sex of the largest collection (n = 22) of Viking Age Icelandic horses studied to date, sourced from both burial (n = 19) and non-burial (n = 3) sites. Our results revealed a male to female sex bias ratio of 18:1 in burial sites, versus 0:3 in non-burial sites. These findings support the significant over-representation of male horses in Viking Age graves in Iceland, yet show that –albeit rare– mares could also be selected for ritual burial in Viking Age Iceland. This cost-effective method provides statistical confidence to allow for sexing of highly fragmented archaeological specimens with low endogenous DNA content

The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage

<p>Abstract</p> <p>Background</p> <p>The <it>MITF </it>(<it>microphthalmia-associated transcription factor</it>) gene has been investigated in mice and various vertebrates but its variations and associated effects have not yet been explored much in birds. The present study describes the causal mutation <it>B </it>at the <it>MITF </it>gene responsible for the "silver" plumage colour in the Japanese quail (<it>Coturnix japonica</it>), and its associated effects on growth and body composition, and tests its allelism with the "blue" plumage colour mutation <it>Bl </it>in <it>Gallus gallus</it>.</p> <p>Results</p> <p>The semi dominant <it>B </it>mutation results from a premature stop codon caused by a 2 bp deletion in exon 11 of <it>MITF</it>. Homozygous "white" (<it>B/B</it>) quail which have a white plumage also show a slightly lower growth, lower body temperature, smaller heart, and lighter <it>pectoralis </it>muscles but more abdominal adipose tissue than the recessive homozygous "wild-type" (<it>+/+</it>) and heterozygous "silver" (<it>B/+</it>) quail. Similar observations on cardiac and body growth were made on mice (<it>Mus musculus</it>) homozygous for mutations at <it>MITF</it>. The production of chicken-quail hybrids with a white plumage obtained by crossing <it>Bl/+ </it>chicken heterozygous for the <it>blue </it>mutation with <it>B/B </it>white quail indicated that the mutations were allelic.</p> <p>Conclusion</p> <p>The "silver" Japanese quail is an interesting model for the comparative study of the effects of <it>MITF </it>in birds and mammals. Further investigation using a chicken family segregating for the "blue" plumage and molecular data will be needed to confirm if the "blue" plumage in chicken results from a mutation in <it>MITF</it>.</p

Changes in the Expression of Myosins During Postnatal Development of Masseter Muscle in the Microphthalmic Mouse

In the present study, to elucidate the influences of the deficiency of teeth on the masseter muscle, we analyzed changes in the expression of MyHC isoform mRNAs during postnatal development in mi/mi mice using real-time PCR. By 8 weeks of age, MyHC I had nearly disappeared in the +/+ mice, while it was still present in the mi/mi, and the level of MyHC I mRNA in the mi/mi was 5.1-fold higher than that in the +/+ (p<0.01). The levels of MyHC IIx mRNAs in the mi/mi mice were 41 ~ 55% lower than those in the +/+ at both 3 weeks and 4 weeks of age (p<0.05). No significant difference in the expression of MyHC IIa and IIb mRNAs in the masseter muscle was found between the mi/mi and +/+. From these results, we speculate that the deficiency of teeth affects the masseter muscles during the postnatal development

Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses

During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, the pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns. White spotting patterns in horses are a complex trait with a large phenotypic variance ranging from minimal white markings up to completely white horses. The “splashed white” pattern is primarily characterized by an extremely large blaze, often accompanied by extended white markings at the distal limbs and blue eyes. Some, but not all, splashed white horses are deaf. We analyzed a Quarter Horse family segregating for the splashed white coat color. Genome-wide linkage analysis in 31 horses gave a positive LOD score of 1.6 in a region on chromosome 6 containing the PAX3 gene. However, the linkage data were not in agreement with a monogenic inheritance of a single fully penetrant mutation. We sequenced the PAX3 gene and identified a missense mutation in some, but not all, splashed white Quarter Horses. Genome-wide association analysis indicated a potential second signal near MITF. We therefore sequenced the MITF gene and found a 10 bp insertion in the melanocyte-specific promoter. The MITF promoter variant was present in some splashed white Quarter Horses from the studied family, but also in splashed white horses from other horse breeds. Finally, we identified two additional non-synonymous mutations in the MITF gene in unrelated horses with white spotting phenotypes. Thus, several independent mutations in MITF and PAX3 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes