Reconstruction of a historical genealogy by means of STR analysis and Y-haplotyping of ancient DNA

Gerstenberger, Julia; Hummel, Susanne; Schultes, Tobias; Häck, Bernhard; Herrmann, Bernd

doi:10.1038/sj.ejhg.5200322

Cited by 51 publications

(33 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Reports of ancient nuclear DNA so far are mainly based on animal skeleton finds (38-42). There are a few studies that report consistent amplification of STR profiles from human skeletal remains (33,34,43,44). We applied the genotyping and reproduction strategies developed in these studies to our sample of 51 bones that previously yielded reproducible human mitochondrial DNA sequences in association with excellently preserved animal bones.…”

Section: Discussionmentioning

confidence: 99%

Absence of the lactase-persistence-associated allele in early Neolithic Europeans

Bürger

Kirchner²,

Bramanti³

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

376

192

View full text Add to dashboard Cite

Lactase persistence (LP), the dominant Mendelian trait conferring the ability to digest the milk sugar lactose in adults, has risen to high frequency in central and northern Europeans in the last 20,000 years. This trait is likely to have conferred a selective advantage in individuals who consume appreciable amounts of unfermented milk. Some have argued for the ''culture-historical hypothesis,'' whereby LP alleles were rare until the advent of dairying early in the Neolithic but then rose rapidly in frequency under natural selection. Others favor the ''reverse cause hypothesis,'' whereby dairying was adopted in populations with preadaptive high LP allele frequencies. Analysis based on the conservation of lactase gene haplotypes indicates a recent origin and high selection coefficients for LP, although it has not been possible to say whether early Neolithic European populations were lactase persistent at appreciable frequencies. We developed a stepwise strategy for obtaining reliable nuclear ancient DNA from ancient skeletons, based on (i) the selection of skeletons from archaeological sites that showed excellent biomolecular preservation, (ii) obtaining highly reproducible human mitochondrial DNA sequences, and (iii) reliable short tandem repeat (STR) genotypes from the same specimens. By applying this experimental strategy, we have obtained high-confidence LP-associated genotypes from eight Neolithic and one Mesolithic human remains, using a range of strict criteria for ancient DNA work. We did not observe the allele most commonly associated with LP in Europeans, thus providing evidence for the culture-historical hypothesis, and indicating that LP was rare in early European farmers.ancient DNA ͉ dairying ͉ selection M ost mammals lose the ability to digest the milk sugar lactose after weaning because of an irreversible reduction in expression of the intestinal enzyme lactase (i.e. lactase phlorizin hydrolase). This pattern is also seen in most humans, but some continue expressing lactase throughout adult life [lactase persistence (LP)]. This dominant Mendelian trait is common in populations of northern and central European descent and shows intermediate frequencies in southern and eastern Europe (1). Africa and the Middle East show a more complex distribution, with pastoralists often having high frequencies of LP, whereas in their nonpastoralist neighbors, it is usually much less common (2). The T allele of C/T polymorphism located 13,910 bp upstream of the lactase (LCT) gene (Ϫ13.910*T) has been shown to associate strongly with LP in Europeans (3), and recent in vitro studies have indicated that it can directly effect LCT gene promoter activity (4). However, different but closely linked polymorphisms associate with LP in most African groups, indicating either that Ϫ13.910*T is not causative of LP and/or that the trait has evolved more than once in humans (2,5,6).It has been suggested that the modern frequency of LP in Europe is the result of a relatively recent and strong selection process (7, 8). Although not...

show abstract

Section: Discussionmentioning

confidence: 99%

Absence of the lactase-persistence-associated allele in early Neolithic Europeans

Bürger

Kirchner²,

Bramanti³

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

376

192

View full text Add to dashboard Cite

show abstract

“…Besides sex determination, another potential of the markers used here should be mentioned: X-and Y-STRs are polymorphic STRs with a structure similar to that of autosomal STRs, and are inherited as haplotypes (Y-STRs) or in a haplotype-like way (closely linked X-STRs), so that they can also be used for extended kinship analysis Gerstenberger et al, 1999), or in forensic deficiency cases (Hering et al, 2001).…”

Section: Resultsmentioning

confidence: 99%

Brief communication: Multiplex X/Y‐PCR improves sex identification in aDNA analysis

Hummel¹,

Herrmann²

2003

American J Phys Anthropol

Self Cite

View full text Add to dashboard Cite

This study introduces a polymerase chain reaction (PCR)-based multiplex approach to improve the certainty of molecular sex identification on archaeological skeletal material. We coamplified amelogenin, two X-chromosomal short tandem repeats (STRs) (DXS6789 and DXS9898), and two Y-specific STRs (DYS391 and DYS392). The amplification results of this multiplex approach back each other up, and enable a reliable sex identification. This coamplification of X- and Y-specific markers in a multiplex assay combines the added advantage of positive identification of both female and male individuals with raising the validity of the diagnosis by obtaining multiple data simultaneously. This multiplex system was successfully applied to 3,000-year-old bone material.

show abstract

“…Some studies have evaluated the probability of familial relationship using phenotypic data (e.g., Alt and Vach 1995a, b;Alt et al 1997;Doi et al 1986;Hanihara et al 1983;Matsumura and Nishimoto 1996) and genetic data (e.g., Gerstenberger et al 1999;Hummel and Herrmann 1996;KeyserTracqui et al 2003;Scholz et al 2001;Shinoda and Kanai 1999;Shinoda and Kunisada 1994), while others have attempted to reconstruct pedigrees among individuals (e.g., Rösing 1986;Spence 1996). Studies also have explored the goodness of fit between results obtained from genetic and phenotypic data and the relative effectiveness of different types of phenotypic traits in reconstructing biological relatedness (e.g., Adachi et al 2003;Corruccini and Shimada 2002;Shimada et al 2004;Shinoda et al 1998).…”

Section: Bioarchaeological Kinship Researchmentioning

confidence: 98%

Bioarchaeology and Kinship: Integrating Theory, Social Relatedness, and Biology in Ancient Family Research

Johnson

Paul

2015

J Archaeol Res

View full text Add to dashboard Cite

Theoretical developments in sociocultural anthropology have transformed the study of kinship. Here, we review these theoretical developments, consider their influence on bioarchaeological kinship research, and propose an alternative framework for studying relatedness in antiquity. We find that broader, more flexible conceptions of relatedness have grown increasingly prevalent in 21st-century bioarchaeology, but kinship research largely continues to emphasize methodological improvement and identification of biological kin in archaeological contexts. By approaching kinship as a multiscalar dimension of social identity, bioarchaeologists can leverage complex conceptions of relatedness with diverse types of data to gain nuanced perspectives on family-based social organization in the past.

show abstract

Reconstruction of a historical genealogy by means of STR analysis and Y-haplotyping of ancient DNA

Abstract: Archaeological excavations in St Margaretha

Cited by 51 publications

References 37 publications

Absence of the lactase-persistence-associated allele in early Neolithic Europeans

Absence of the lactase-persistence-associated allele in early Neolithic Europeans

Brief communication: Multiplex X/Y‐PCR improves sex identification in aDNA analysis

Bioarchaeology and Kinship: Integrating Theory, Social Relatedness, and Biology in Ancient Family Research

Contact Info

Product

Resources

About