A melanocortin 1 receptor allele suggests varying pigmentation among neanderthals
C. Lalueza-Fox
,
H. Rompler
,
D. Caramelli
,
C. Staubert
,
G. Catalano
,
D. Hughes
,
N. Rohland
,
E. Pilli
,
L. Longo
,
Silvana Condemi
(1)
,
M. de La Razilla
,
J. Fortea
,
A. Rosas
,
M. Stoneking
,
T. Schoneberg
,
J. Bertranpetit
,
M. Hofreiter
C. Lalueza-Fox
- Fonction : Auteur
H. Rompler
- Fonction : Auteur
D. Caramelli
- Fonction : Auteur
C. Staubert
- Fonction : Auteur
G. Catalano
- Fonction : Auteur
D. Hughes
- Fonction : Auteur
N. Rohland
- Fonction : Auteur
E. Pilli
- Fonction : Auteur
L. Longo
- Fonction : Auteur
Silvana Condemi
- Fonction : Auteur
- PersonId : 750422
- IdHAL : silvana-condemi
- ORCID : 0000-0002-6516-0879
- IdRef : 030687802
M. de La Razilla
- Fonction : Auteur
J. Fortea
- Fonction : Auteur
A. Rosas
- Fonction : Auteur
M. Stoneking
- Fonction : Auteur
- PersonId : 754815
- IdHAL : mark-stoneking
- ORCID : 0000-0001-9044-6679
T. Schoneberg
- Fonction : Auteur
J. Bertranpetit
- Fonction : Auteur
M. Hofreiter
- Fonction : Auteur
Résumé
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 ~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.
Domaines
Anthropologie biologiqueFormat du dépôt | Notice |
---|---|
Type de dépôt | Autre publication scientifique |
Titre |
en
A melanocortin 1 receptor allele suggests varying pigmentation among neanderthals
|
Résumé |
en
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 ~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.
|
Auteur(s) |
C. Lalueza-Fox
, H. Rompler
, D. Caramelli
, C. Staubert
, G. Catalano
, D. Hughes
, N. Rohland
, E. Pilli
, L. Longo
, Silvana Condemi
1
, M. de La Razilla
, J. Fortea
, A. Rosas
, M. Stoneking
, T. Schoneberg
, J. Bertranpetit
, M. Hofreiter
1
UAABC -
Anthropologie Bio-Culturelle
( 942 )
- Faculté de Médecine - Secteur Nord Batiment A - CS80011 Bd Pierre Dramard 13344 MARSEILLE Cedex 15 FRANCE
- France
|
Vulgarisation |
Non
|
Langue du document |
Anglais
|
Audience |
Non spécifiée
|
Date de publication |
2007
|
Description |
Electronic Report in Sciencexpress and publication in Science
|
Domaine(s) |
|
Mots-clés |
en
melanocortin 1, neanderthals
|
DOI | 10.1126/science.1147417 |
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