Targeted investigation of the Neandertal genome by array-based sequence capture.

It is now possible to perform whole-genome shotgun sequencing as well as capture of specific genomic regions for extinct organisms. However, targeted resequencing of large parts of nuclear genomes has yet to be demonstrated for ancient DNA. Here we show that hybridization capture on microarrays can successfully recover more than a megabase of target regions from Neandertal DNA even in the presence of approximately 99.

A draft sequence of the Neandertal genome.

Neandertals, the closest evolutionary relatives of present-day humans, lived in large parts of Europe and western Asia before disappearing 30,000 years ago. We present a draft sequence of the Neandertal genome composed of more than 4 billion nucleotides from three individuals. Comparisons of the Neandertal genome to the genomes of five present-day humans from different parts of the world identify a number of genomic regions that may have been affected by positive selection in ancestral modern humans, including genes involved in metabolism and in cognitive and skeletal development.

Comparative morphology and morphometric assessment of the Neandertal occipital remains from the El Sidrón site (Asturias, Spain: years 2000-2008).

This paper analyses the occipital remains recovered from the El Sidrón (Asturias, Spain) Neandertal site between the years of 2000-2008. The sample is represented by three specimens, SD-1219, SD-1149, and SD-370a. Descriptive morphology, linear measurements, 3D geometric morphometrics, and virtual anthropological methods were employed to address the morphological, morphometric, and phylogenetic affinities of these fossils.

Bitter taste perception in Neanderthals through the analysis of the TAS2R38 gene.

The bitter taste perception (associated with the ability or inability to taste phenylthiocarbamide) is mediated by the TAS2R38 gene. Most of the variation in this gene is explained by three common amino-acid polymorphisms at positions 49 (encoding proline or alanine), 262 (alanine or valine) and 296 (valine or isoleucine) that determine two common isoforms: proline-alanine-valine (PAV) and alanine-valine-isoleucine (AVI). PAV is the major taster haplotype (heterozygote and homozygote) and AVI is the major non-taster haplotype (homozygote).

Targeted retrieval and analysis of five Neandertal mtDNA genomes.

Analysis of Neandertal DNA holds great potential for investigating the population history of this group of hominins, but progress has been limited due to the rarity of samples and damaged state of the DNA. We present a method of targeted ancient DNA sequence retrieval that greatly reduces sample destruction and sequencing demands and use this method to reconstruct the complete mitochondrial DNA (mtDNA) genomes of five Neandertals from across their geographic range. We find that mtDNA genetic diversity in Neandertals that lived 38,000 to 70,000 years ago was approximately one-third of that in contemporary modern humans.

Genetic characterization of the ABO blood group in Neandertals.

Background: The high polymorphism rate in the human ABO blood group gene seems to be related to susceptibility to different pathogens. It has been estimated that all genetic variation underlying the human ABO alleles appeared along the human lineage, after the divergence from the chimpanzee lineage. A paleogenetic analysis of the ABO blood group gene in Neandertals allows us to directly test for the presence of the ABO alleles in these extinct humans.

Endocranial occipito-temporal anatomy of SD-1219 from the Neandertal El Sidrón Site (Asturias, Spain).

We addressed the brain drainage system as inferred by the endocranial morphology of the occipito-temporal region of the El Sidrón Neandertal specimen SD-1219. Morphological details of the endocranial surface and its anatomical implications were analyzed for the reconstruction of the dural sinus drainage pattern and its comparison with Neandertals and other hominids. The specimen SD-1219 shows a pattern in which the superior sagittal sinus goes into the right transverse sinus.

Dental tissue proportions and enamel thickness in Neandertal and modern human molars.

The thickness of dental enamel is often discussed in paleoanthropological literature, particularly with regard to differences in growth, health, and diet between Neandertals and modern humans. Paleoanthropologists employ enamel thickness in paleodietary and taxonomic studies regarding earlier hominins, but variation in enamel thickness within the genus Homo has not been thoroughly explored despite its potential to discriminate species and its relevance to studies of growth and development. Radiographic two-dimensional studies indicate that Neandertal molar enamel is thin relative to the thick enamel of modern humans, although such methods have limited accuracy.

A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.

The melanocortin 1 receptor (MC1R) regulates pigmentation in humans and other vertebrates. Variants of MC1R with reduced function are associated with pale skin color and red hair in humans of primarily European origin. We amplified and sequenced a fragment of the MC1R gene (mc1r) from two Neanderthal remains.

The derived FOXP2 variant of modern humans was shared with Neandertals.

Although many animals communicate vocally, no extant creature rivals modern humans in language ability. Therefore, knowing when and under what evolutionary pressures our capacity for language evolved is of great interest. Here, we find that our closest extinct relatives, the Neandertals, share with modern humans two evolutionary changes in FOXP2, a gene that has been implicated in the development of speech and language.

Paleobiology and comparative morphology of a late Neandertal sample from El Sidron, Asturias, Spain.

Fossil evidence from the Iberian Peninsula is essential for understanding Neandertal evolution and history. Since 2000, a new sample approximately 43,000 years old has been systematically recovered at the El Sidrón cave site (Asturias, Spain). Human remains almost exclusively compose the bone assemblage.

Neandertal evolutionary genetics: mitochondrial DNA data from the iberian peninsula.

Mitochondrial DNA (mtDNA) was retrieved for the first time from a Neandertal from the Iberian Peninsula, excavated from the El Sidrón Cave (Asturias, North of Spain), and dated to ca. 43,000 years ago. The sequence suggests that Iberian Neandertals were not genetically distinct from those of other regions.