Comparison between morphological and genetic data to estimate biological relationship: the case of the Egyin Gol necropolis (Mongolia).

Osseous and dental nonmetric (discrete) traits have long been used to assess population variability and affinity in anthropological and archaeological contexts. However, the full extent to which nonmetric traits can reliably be used as a proxy for genetic data when assessing close or familial relationships is currently poorly understood. This study represents the unique opportunity to directly compare genetic and nonmetric data for the same individuals excavated from the Egyin Gol necropolis, Mongolia.

Human ancient and extant mtDNA from the Gambier Islands (French polynesia): evidence for an early Melanesian maternal contribution and new perspectives into the settlement of easternmost Polynesia.

Molecular anthropology has been widely used to infer the origin and processes of the colonization of Polynesia. However, there are still a lack of representative geographical studies of Eastern Polynesia and unchallenged genetic data about ancient Polynesian people. The absence of both of these elements prevents an accurate description of the demographic processes of internal dispersion within the Polynesian triangle.

Complete mitochondrial sequences for haplogroups M23 and M46: insights into the Asian ancestry of the Malagasy population.

Through the sequencing of the complete mitochondrial genome of three individuals of Malagasy ancestry, we completed the characterization of the island southeastern Asian specific M46 haplogroup. We assumed that the association of the np 3588 and np 16278 polymorphisms were M46 specific. In addition, we characterized a novel basal M subhaplogroup: M23.

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Background: Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the most frequent forms of hereditary optic neuropathies. LHON is associated with mitochondrial DNA (mtDNA) mutations whereas ADOA is mainly due to mutations in the OPA1 gene that encodes a mitochondrial protein involved in the mitochondrial inner membrane remodeling. A striking influence of mtDNA haplogroup J on LHON expression has been demonstrated and it has been recently suggested that this haplogroup could also influence ADOA expression.

Inter- and extra-Indian admixture and genetic diversity in reunion island revealed by analysis of mitochondrial DNA.

Reunion Island is a French territory located in the western Indian Ocean. The genetic pattern of the Reunionese population has been shaped by contributions from highly contrasting regions of the world. Over the last 350 years, several migration waves and cultural and socio-economic factors have led to the emergence of six main ethnic groups in Reunion.

Genetic data analysis of 10 Y-STR loci in two ethnic groups of Asian ancestry (Gujarat and Guangdong-Fujian provinces) from Reunion Island (Indian Ocean).

One hundred and twenty-three unrelated individuals belonging to two ethnic groups (Shinwa and Zarab) of Asian ancestry from Reunion Island (Indian Ocean) were analyzed for 10 Y-STR loci. Haplotype diversity and frequencies were determined for loci DYS19, DYS385a/b, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and YCAIIa/b. The two ethnic groups do not share haplotypes, and a total of 98 distinct haplotypes were identified.

New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.

Background: The A3243G mutation in the tRNALeu gene (UUR), is one of the most common pathogenic mitochondrial DNA (mtDNA) mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relationships between the A3243G mutation and mtDNA backgrounds, we determined the haplogroup affiliation of 142 unrelated French patients - diagnosed as carriers of the A3243G mutation - by control-region sequencing and RFLP survey of their mtDNAs.

Results: The analysis revealed 111 different haplotypes encompassing all European haplogroups, indicating that the 3243 site might be a mutational hot spot.

mtDNA polymorphisms in five French groups: importance of regional sampling.

According to classical markers, France has been reported to be regionally heterogeneous. Here, we propose to test the homogeneity of the French mitochondrial gene pool by analysing D-Loop and coding regions polymorphisms in 210 individuals stemming from five regions. The data set obtained was also used to test the ability of mitochondrial DNA to detect well historically established admixtures (admixtures between British/Irish people and native Breton people in our case).

Variability of the pattern of aging on the human skeleton: evidence from bone indicators and implications on age at death estimation.

Age at death assessment of adult skeletons is one of the most difficult problems in forensic and physical anthropology. Two fundamental sources of error are described: the complex variability in the process of skeletal aging and methodological bias. Taking into account these limits, we developed a new scoring system for the auricular surface of the ilium and the pubic symphysis.