Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype

Grimes, Eileen A.; Noake, Penny J.; Dixon, Lindsey; Urquhart, Andrew J.

doi:10.1016/s0379-0738(01)00480-7

Cited by 83 publications

(51 citation statements)

References 20 publications

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“…Moreover, as a very distinguishing human trait, pigmentation is also in the area of interest for forensic science (Jobling & Gill, 2004;Branicki et al 2005). The MC1R gene is the first example of a genetic marker whose prognostic value has already been explored by forensics for red hair colour prediction (Grimes et al 2001;Branicki et al 2007). Another more thoroughly studied pigment gene is OCA2 which is a major gene involved in oculocutaneous albinism in human (Oetting et al 1996).…”

Section: Discussionmentioning

confidence: 99%

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Branicki

Brudnik

Kupiec

et al. 2007

Annals of Human Genetics

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SummaryA number of genes are considered to affect normal variation in human pigmentation. Recent studies have indicated that OCA2 is the crucial gene involved in the high variation of iris colour present among populations of European descent. In this study, eleven polymorphisms of the OCA2 gene were examined in search of their association with different pigment traits. The evolutionary tree scanning method indicated that the strongest phenotypic eye colour variation is associated with the branch defined by nonsynonymous change rs1800407, which refers to amino acid causing change Arg419Gln located in exon 13. Single SNP analysis indicated that allele 419Gln is associated with green/hazel iris colour (p < 0.001). According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour.

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Section: Discussionmentioning

confidence: 99%

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Branicki

Brudnik

Kupiec

et al. 2007

Annals of Human Genetics

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“…Nowadays, red hair phenotype is being predicted using assays that rely on examination of the single MC1R gene, and this allows correct inference in more than 90% of cases (Grimes et al 2001;Branicki et al 2007). Future assays ought to be more relevant in this matter as they should take into account differences that have been noticed in red hair colour inheritance for various populations and perhaps encompass analysis of additional genes (Pastorino et al 2004).…”

Section: Introductionmentioning

confidence: 99%

Association of the SLC45A2 gene with physiological human hair colour variation

et al. 2008

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Pigmentation is a complex physical trait with multiple genes involved. Several genes have already been associated with natural differences in human pigmentation. The SLC45A2 gene encoding a transporter protein involved in melanin synthesis is considered to be one of the most important genes affecting human pigmentation. Here we present results of an association study conducted on a population of European origin, where the relationship between two non-synonymous polymorphisms in the SLC45A2 gene -rs26722 (E272K) and rs16891982 (L374F) -and different pigmentation traits was examined. The study revealed a significant association between both variable sites and normal variation in hair colour. Only L374F remained significantly associated with hair colour when both SNPs were included in a logistic regression model. No association with other pigmentation traits was detected in this population sample. Our results indicate that the rare allele L374 significantly increases the possibility of having black hair colour (OR = 7.05) and thus may be considered as a future marker for black hair colour prediction.

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“…41 Fiziksel özellik tahminine dayalı ilk adli fenotiplendirme çalışması İngiltere Adli Bilimler Enstitüsü tarafından gerçekleştirilmiş; kızıl saç rengi ile ilişkili olan melanokortin 1 reseptör (MC1R) geni için basit bir test geliştirilmiştir. 42 Ardından HERC2, OCA2, SLC24A4, SLC45A2, TYR ve IRF4 genleri ile çalışmalar yapılmıştır. [43][44][45][46][47][48] Son dönemlerde, bu çalış-malardan elde edilen bilgiler ışığında mavi ve kahverengi göz rengi tahminine yardımcı olmak için "IrisPlex" test kiti geliştirilmiştir.…”

Section: Fenoti̇p Beli̇rteci̇ Tek Nükleoti̇d Poli̇morfi̇zmlerunclassified

Single Nucleotide Polymorphisms in Forensic Applications Based on Identification: Review

Serin¹,

Canan²,

Ulubay³

2016

Turkiye Klinikleri J Foren Med

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Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype

Cited by 83 publications

References 20 publications

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Association of the SLC45A2 gene with physiological human hair colour variation

Single Nucleotide Polymorphisms in Forensic Applications Based on Identification: Review

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