A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals

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

doi:10.1126/science.1147417

A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals

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

Research output: Contribution to journal › Article (Academic Journal) › peer-review

247 Citations (Scopus)

Abstract

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. Both specimens have a mutation that was not found in approximately 3700 modern humans analyzed. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially on the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.

Original language	English
Pages (from-to)	1453-5
Number of pages	3
Journal	Science
Volume	318
Issue number	5855
DOIs	https://doi.org/10.1126/science.1147417
Publication status	Published - 30 Nov 2007

Keywords

Alleles
Amino Acid Substitution
Animals
Biological Evolution
Cell Line
DNA/genetics
Fossils
Hair Color/genetics
Hominidae/genetics
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Receptor, Melanocortin, Type 1/chemistry
Sequence Analysis, DNA
Skin Pigmentation/genetics

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Lalueza-Fox, C., Römpler, H., Caramelli, D., Stäubert, C., Catalano, G., Hughes, D., Rohland, N., Pilli, E., Longo, L., Condemi, S., de la Rasilla, M., Fortea, J., Rosas, A., Stoneking, M., Schöneberg, T., Bertranpetit, J., & Hofreiter, M. (2007). A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science, 318(5855), 1453-5. https://doi.org/10.1126/science.1147417

@article{29d907c6971440b8aeee9aa87197305e,

title = "A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals",

abstract = "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. Both specimens have a mutation that was not found in approximately 3700 modern humans analyzed. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially on the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.",

keywords = "Alleles, Amino Acid Substitution, Animals, Biological Evolution, Cell Line, DNA/genetics, Fossils, Hair Color/genetics, Hominidae/genetics, Humans, Molecular Sequence Data, Mutation, Polymerase Chain Reaction, Receptor, Melanocortin, Type 1/chemistry, Sequence Analysis, DNA, Skin Pigmentation/genetics",

author = "Carles Lalueza-Fox and Holger R{\"o}mpler and David Caramelli and Claudia St{\"a}ubert and Giulio Catalano and David Hughes and Nadin Rohland and Elena Pilli and Laura Longo and Silvana Condemi and {de la Rasilla}, Marco and Javier Fortea and Antonio Rosas and Mark Stoneking and Torsten Sch{\"o}neberg and Jaume Bertranpetit and Michael Hofreiter",

year = "2007",

month = nov,

day = "30",

doi = "10.1126/science.1147417",

language = "English",

volume = "318",

pages = "1453--5",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5855",

}

Lalueza-Fox, C, Römpler, H, Caramelli, D, Stäubert, C, Catalano, G, Hughes, D, Rohland, N, Pilli, E, Longo, L, Condemi, S, de la Rasilla, M, Fortea, J, Rosas, A, Stoneking, M, Schöneberg, T, Bertranpetit, J & Hofreiter, M 2007, 'A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals', Science, vol. 318, no. 5855, pp. 1453-5. https://doi.org/10.1126/science.1147417

TY - JOUR

T1 - A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals

AU - Lalueza-Fox, Carles

AU - Römpler, Holger

AU - Caramelli, David

AU - Stäubert, Claudia

AU - Catalano, Giulio

AU - Hughes, David

AU - Rohland, Nadin

AU - Pilli, Elena

AU - Longo, Laura

AU - Condemi, Silvana

AU - de la Rasilla, Marco

AU - Fortea, Javier

AU - Rosas, Antonio

AU - Stoneking, Mark

AU - Schöneberg, Torsten

AU - Bertranpetit, Jaume

AU - Hofreiter, Michael

PY - 2007/11/30

Y1 - 2007/11/30

N2 - 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. Both specimens have a mutation that was not found in approximately 3700 modern humans analyzed. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially on the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.

AB - 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. Both specimens have a mutation that was not found in approximately 3700 modern humans analyzed. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially on the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.

KW - Alleles

KW - Amino Acid Substitution

KW - Animals

KW - Biological Evolution

KW - Cell Line

KW - DNA/genetics

KW - Fossils

KW - Hair Color/genetics

KW - Hominidae/genetics

KW - Humans

KW - Molecular Sequence Data

KW - Mutation

KW - Polymerase Chain Reaction

KW - Receptor, Melanocortin, Type 1/chemistry

KW - Sequence Analysis, DNA

KW - Skin Pigmentation/genetics

U2 - 10.1126/science.1147417

DO - 10.1126/science.1147417

M3 - Article (Academic Journal)

C2 - 17962522

SN - 0036-8075

VL - 318

SP - 1453

EP - 1455

JO - Science

JF - Science

IS - 5855

ER -

A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals

Abstract

Keywords

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