Search bioRxiv⌕ Search

Biology subjects

Saglıcan, E.

Publications and source records attributed to Saglıcan, E..

7 recordsLinked to original sources

The mini yet mighty stapes: a comparison of ancient DNA yields among ossicles and the petrous bone

The petrous bone is considered the most efficient source of endogenous DNA across skeletal tissues in ancient DNA research as well as in forensic work. Recently, ancient DNA (aDNA) in auditory ossicle bones was shown to be comparably well-preserved as in the petrous, although no attempt was made to distinguish among the three ossicle bones. In this study, we used a total of 114 human ossicle- and petrous-derived sequencing libraries from similar contexts (c.10,000 BP - 7,000 BP Anatolia), including 34 matched libraries prepared from the same individuals ossicle and petrous bones. Our results suggest that endogenous human aDNA preservation in the stapes is on average two times higher than in the petrous bone; it also tends to be higher than in the malleus and incus. Similarly, aDNA fragment lengths were higher in the stapes than in the petrous, whereas postmortem damage, clonality and contamination rates were comparable. Despite being the smallest bone in the human skeleton, the stapes may be the most optimal aDNA source yet identified.

genetics↗

An age-specific burial practice reflected in ancient DNA preservation in Neolithic Catalhöyük

Selective funerary practices can inform about social relationships in prehistoric societies but are often difficult to discern. Here we present evidence for an age-specific practice at the Neolithic site of Catalhoyuk in Anatolia, dating to the 7th millennium BCE. Among ancient DNA libraries produced from 362 petrous bone samples, those of subadults contained three times higher average human DNA than those of adults. This difference in organic preservation was also confirmed by FTIR analysis. Studying similar datasets from seven prehistoric and historical sites, we found a similar age-related difference in only one cemetery. We propose that the organic preservation difference with age was caused by the special treatment of chosen corpses before interment, such as defleshing or drying, which was more frequently applied to Catalhoyuk adults and promoted organic decay.

evolutionary biology↗

Pre-processing of paleogenomes: Mitigating reference bias and postmortem damage in ancient genome data

Ancient DNA analysis is subject to various technical challenges, including bias towards the reference allele ("reference bias"), postmortem damage (PMD) that confounds real variants, and limited coverage. Here, we conduct a systematic comparison of alternative approaches against reference bias and against PMD. To reduce reference bias, we either (a) mask variable sites before alignment or (b) align the data to a graph genome representing all variable sites. Compared to alignment to the linear reference genome, both masking and graph alignment effectively remove allelic bias when using simulated or real ancient human genome data, but only if sequencing data is available in FASTQ or unfiltered BAM format. Reference bias remains indelible in quality-filtered BAM files and in 1240K-capture data. We next study three approaches to overcome postmortem damage: (a) trimming, (b) rescaling base qualities, and (c) a new algorithm we present here, bamRefine, which masks only PMD-vulnerable polymorphic sites. We find that bamRefine is optimal in increasing the number of genotyped loci up to 20% compared to trimming and in improving accuracy compared to rescaling. We propose graph alignment coupled with bamRefine to minimise data loss and bias. We also urge the paleogenomics community to publish FASTQ files.

bioinformatics↗

Benchmarking kinship estimation tools for ancient genomes using pedigree simulations

There is growing interest in uncovering genetic kinship patterns in past societies using low-coverage paleogenomes. Here, we benchmark four tools for kinship estimation with such data: lcMLkin, NgsRelate, KIN, and READ, which differ in their input, IBD-estimation methods and statistical approaches. We used pedigree and ancient genome sequence simulations to evaluate these tools when only a limited number (1K to 50K) of shared SNPs (with minor allele frequency [≥]0.01) are available. The performance of all four tools was comparable using [≥]20K SNPs. We found that first-degree related pairs can be accurately classified even with 1K SNPs, with 85% F1 scores using READ and 96% using NgsRelate or lcMLkin. Distinguishing third-degree relatives from unrelated pairs or second-degree relatives was also possible with high accuracy (F1 >90%) with 5K SNPs using NgsRelate and lcMLkin, while READ and KIN showed lower success (69% and 79%, respectively). Meanwhile, noise in population allele frequencies and inbreeding (first cousin mating) led to deviations in kinship coefficients, with different sensitivities across tools. We conclude that using multiple tools in parallel might be an effective approach to achieve robust estimates on ultra-low coverage genomes.

genetics↗

The first complete genome of the extinct European wild ass (Equus hemionus hydruntinus)

We present paleogenomes of three morphologically-unidentified Anatolian equids dating to the 1st millennium BCE, sequenced to coverages of 0.6-6.4X. Mitochondrial DNA haplotypes of the Anatolian individuals clustered with those of Equus hydruntinus (or Equus hemionus hydruntinus), the extinct European wild ass. The Anatolian wild ass whole genome profiles fall outside the genomic diversity of other extant and past Asiatic wild ass (E.hemionus) lineages. These observations strongly suggest that the three Anatolian wild asses represent E.hydruntinus, making them the latest recorded survivors of this lineage, about a millennium later than the latest observations in the zooarchaeological record. Comparative genomic analyses suggest that E.hydruntinus was a sister clade to all ancient and present-day E.hemionus lineages, representing an early split. We also find indication of gene flow between hydruntines and Middle Eastern wild asses. Analyses of genome-wide heterozygosity and runs of homozygosity reveal that the Anatolian wild ass population had severely lost genetic diversity by the mid-1st millennium BCE, a likely omen of its eventual demise.

genomics↗

MTaxi : A comparative tool for taxon identification of ultra low coverage ancient genomes

A major challenge in zooarchaeology is to morphologically distinguish closely related species remains, especially using small bone fragments. Shotgun sequencing aDNA from archeological remains and comparative alignment to the candidate species reference genomes will only apply when reference nuclear genomes of comparable quality are available, and may still fail when coverages are low. Here, we propose an alternative method, MTaxi, that uses highly accessible mitochondrial DNA (mtDNA) to distinguish between pairs of closely related species from ancient DNA sequences. MTaxi utilises mtDNA transversion-type substitutions between pairs of candidate species, assigns reads to either species, and performs a binomial test to determine the sample taxon. We tested MTaxi on sheep/goat and horse/donkey data, between which zooarchaeological classification can be challenging in ways that epitomise our case. The method performed efficiently on simulated ancient genomes down to 0.5x mitochondrial coverage for both sheep/goat and horse/donkey, with no false positives. Trials on n=18 ancient sheep/goat samples and n=10 horse/donkey samples of known species identity with mtDNA coverages 0.1x - 12x also yielded 100% accuracy. Overall, MTaxi provides a straightforward approach to classify closely related species that are compelling to distinguish through zooarchaeological methods using low coverage aDNA data, especially when similar quality reference genomes are unavailable. MTaxi is freely available at https://github.com/goztag/MTaxi.

bioinformatics↗

Archaeogenetic analysis of Neolithic sheep from Anatolia suggests a complex demographic history since domestication

Sheep was among the first domesticated animals, but its demographic history is little understood. Here we present combined analyses of mitochondrial and nuclear polymorphism data from ancient central and west Anatolian sheep dating to the Late Glacial and early Holocene. We observe loss of mitochondrial haplotype diversity around 7500 BCE during the early Neolithic, consistent with a domestication-related bottleneck. Post-7000 BCE, mitochondrial haplogroup diversity increases, compatible with admixture from other domestication centres and/or from wild populations. Analysing archaeogenomic data, we further find that Anatolian Neolithic sheep (ANS) are genetically closest to present-day European breeds, and especially those from central and north Europe. Our results indicate that Asian contribution to south European breeds in the post-Neolithic era, possibly during the Bronze Age, may explain this pattern.

evolutionary biology↗