A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals

Lalueza-Fox, Carles; Römpler, Holger; Caramelli, David; Stäubert, Claudia; Catalano, Giulio; Hughes, David A.; Rohland, Nadin; Pilli, Elena; Longo, Laura; Condémi, Silvana; Vives, Marco de la Rasilla; Fortea, Javier; Rosas, Antonio; Stoneking, Mark; Schöneberg, Torsten; Bertranpetit, Jaume; Hofreiter, Michael

doi:10.1126/science.1147417

Cited by 266 publications

(162 citation statements)

References 27 publications

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“…Dentine powder samples (usually <100 mg) and some bone samples were extracted as described (15), and mtDNA was amplified using a two-step PCR protocol (12). In each PCR, one or two blocking primers, designed to anneal to the anatomically modern contaminant sequences (Cambridge Reference Sequence haplotype) and prevent their amplification (27), were added.…”

Section: Methodsmentioning

confidence: 99%

Genetic evidence for patrilocal mating behavior among Neandertal groups

Lalueza-Fox

Rosas²,

Estalrrich³

et al. 2010

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

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168

105

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The remains of 12 Neandertal individuals have been found at the El Sidrón site (Asturias, Spain), consisting of six adults, three adolescents, two juveniles, and one infant. Archaeological, paleontological, and geological evidence indicates that these individuals represent all or part of a contemporaneous social group of Neandertals, who died at around the same time and later were buried together as a result of a collapse of an underground karst. We sequenced phylogenetically informative positions of mtDNA hypervariable regions 1 and 2 from each of the remains. Our results show that the 12 individuals stem from three different maternal lineages, accounting for seven, four, and one individual(s), respectively. Using a Y-chromosome assay to confirm the morphological determination of sex for each individual, we found that, although the three adult males carried the same mtDNA lineage, each of the three adult females carried different mtDNA lineages. These findings provide evidence to indicate that Neandertal groups not only were small and characterized by low genetic diversity but also were likely to have practiced patrilocal mating behavior.patrilocality | kinship | demography | human evolution

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Section: Methodsmentioning

confidence: 99%

Genetic evidence for patrilocal mating behavior among Neandertal groups

Lalueza-Fox

Rosas²,

Estalrrich³

et al. 2010

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

Self Cite

168

105

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“…In humans, KITLG is not associated with cancer risk, although rare germline KIT mutations have been associated with familial gastrointestinal stromal tumours (GIST), a type of gastrointestinal sarcoma [44]. Interestingly, there is precedent for the role of MC1R as a modifier of disease, as germline MC1R variants in humans affect pigmentation [45,46] and seemingly function as genomic modifiers for several human diseases [47][48][49][50][51], in one study conferring risk for BRAF-mutant melanoma [52].…”

Section: Germline and Cancer Riskmentioning

confidence: 99%

Comparative oncology: what dogs and other species can teach us about humans with cancer

Schiffman

Breen

2015

Phil. Trans. R. Soc. B

307

315

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One contribution of 18 to a theme issue 'Cancer across life: Peto's paradox and the promise of comparative oncology'. Over 1.66 million humans (approx. 500/100 000 population rate) and over 4.2 million dogs (approx. 5300/100 000 population rate) are diagnosed with cancer annually in the USA. The interdisciplinary field of comparative oncology offers a unique and strong opportunity to learn more about universal cancer risk and development through epidemiology, genetic and genomic investigations. Working across species, researchers from human and veterinary medicine can combine scientific findings to understand more quickly the origins of cancer and translate these findings to novel therapies to benefit both human and animals. This review begins with the genetic origins of canines and their advantage in cancer research. We next focus on recent findings in comparative oncology related to inherited, or genetic, risk for tumour development. We then detail the somatic, or genomic, changes within tumours and the similarities between species. The shared cancers between humans and dogs that we discuss include sarcoma (osteosarcoma, soft tissue sarcoma, histiocytic sarcoma, hemangiosarcoma), haematological malignancies (lymphoma, leukaemia), bladder cancer, intracranial neoplasms (meningioma, glioma) and melanoma. Tumour risk in other animal species is also briefly discussed. As the field of genomics advances, we predict that comparative oncology will continue to benefit both humans and the animals that live among us.

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“…Between 2007 and 2009, by amplifying small nuclear regions encompassing functional variants, researchers found that some Neanderthals were probably red-haired and pale skinned [19], they had bitter taste perception ability [20] and presented the ABO blood type O [21]. In addition, having the same functional variants as modern humans in the FOXP2-a gene that when mutated generates a speech and language impediment-suggested that Neanderthals might have been able to communicate with similar language capabilities to ours, or at least they had the genetic basis to do so [22].…”

Section: The First Nuclear Dna Sequencesmentioning

confidence: 99%

Almost 20 years of Neanderthal palaeogenetics: adaptation, admixture, diversity, demography and extinction

Sánchez-Quinto

Lalueza-Fox

2015

Phil. Trans. R. Soc. B

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Nearly two decades since the first retrieval of Neanderthal DNA, recent advances in next-generation sequencing technologies have allowed the generation of high-coverage genomes from two archaic hominins, a Neanderthal and a Denisovan, as well as a complete mitochondrial genome from remains which probably represent early members of the Neanderthal lineage. This genomic information, coupled with diversity exome data from several Neanderthal specimens is shedding new light on evolutionary processes such as the genetic basis of Neanderthal and modern human-specific adaptations-including morphological and behavioural traits-as well as the extent and nature of the admixture events between them. An emerging picture is that Neanderthals had a long-term small population size, lived in small and isolated groups and probably practised inbreeding at times. Deleterious genetic effects associated with these demographic factors could have played a role in their extinction. The analysis of DNA from further remains making use of new large-scale hybridization-capture-based methods as well as of new approaches to discriminate contaminant DNA sequences will provide genetic information in spatial and temporal scales that could help clarify the Neanderthal's-and our very own-evolutionary history.

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A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals

Cited by 266 publications

References 27 publications

Genetic evidence for patrilocal mating behavior among Neandertal groups

Genetic evidence for patrilocal mating behavior among Neandertal groups

Comparative oncology: what dogs and other species can teach us about humans with cancer

Almost 20 years of Neanderthal palaeogenetics: adaptation, admixture, diversity, demography and extinction

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