Results 151 to 160 of about 4,924 (174)

Human eye colour and HERC2, OCA2 and MATP

Forensic Science International: Genetics, 2010
Prediction of human eye colour by forensic genetic methods is of great value in certain crime investigations. Strong associations between blue/brown eye colour and the SNP loci rs1129038 and rs12913832 in the HERC2 gene were recently described. Weaker associations between eye colour and other genetic markers also exist.
Mengel-From, Jonas, Børsting, Claus, Sanchez, Juan J., Eiberg, Hans, Morling, Niels   +4 more
openaire   +3 more sources

The MatP/matS Site-Specific System Organizes the Terminus Region of the E. coli Chromosome into a Macrodomain [PDF]

Cell, 2008
The organization of the Escherichia coli chromosome into insulated macrodomains influences the segregation of sister chromatids and the mobility of chromosomal DNA. Here, we report that organization of the Terminus region (Ter) into a macrodomain relies on the presence of a 13 bp motif called matS repeated 23 times in the 800-kb-long domain. matS sites
Romain Mercier, Marie-Agnès Petit, Sophie Schbath   +2 more
exaly   +6 more sources

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

Human Mutation, 2004
Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer.
Barbara Kasmann-Kellner
exaly   +3 more sources

Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci [PDF]

Journal of Investigative Dermatology, 2009
Single nucleotide polymorphisms (SNPs) within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P genes have been associated with natural variation of pigmentation traits in human populations. Here, we describe the characterization of human primary melanocytic cells genotyped for polymorphisms within the MATP, NCKX5, or OCA2 loci.
Darren J Smit, Darren L Brown, Lorenza Pastorino   +2 more
exaly   +5 more sources

POLYMORPHISM OF MC1R, MATP AND PMEL17 GENES IN BASHKIR HORSES

Horse breeding and equestrian sports, 2019
Башкирская лошадь является одной из старейших локальных пород, разводимых в Российской федерации. Целью исследования было изучение полиморфизма генов MC1R, MATP и PMEL17 у лошадей башкирской породы. Bashkir horse is one of the old local breeds of Russia. The aim
openaire   +1 more source

MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids

International Journal of Legal Medicine, 2004
Inference of the population and ancestry to which an individual belongs is important in forensic individualization and personal identification. In this study, five polymorphisms of the membrane-associated transporter protein (MATP) gene were investigated in German and Japanese populations.
Isao, Yuasa, Kazuo, Umetsu, Gotaro, Watanabe, Hiroaki, Nakamura, Minoru, Endoh, Yoshito, Irizawa   +5 more
openaire   +2 more sources

Variants of theMATP/SLC45A2gene are protective for melanoma in the French population

Human Mutation, 2008
In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition. A cohort comprising 1,019 melanoma patients (MelanCohort) and 1,466 Caucasian controls without skin cancers were studied. A total of 10 polymorphisms, including five functional MC1R alleles (p.Asp84Glu,
Guedj, M., Bourillon, A., Combadières, C., Rodero, M., Dieudé, P., Descamps, V., Dupi, N., Wolkenstein, P., Aegerter, P., Lebbe, C., Basset-Seguin, N., Prum, B., Saiag P,, Grandchamp, B., Soufi, N., MelanCohort Investigators   +15 more
openaire   +3 more sources

Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder‐Haplotype Analysis

Annals of Human Genetics, 2006
SummaryThe membrane‐associated transporter protein (MATP) plays an important role in melanin synthesis. The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations. In this study more detailed distribution of the F374 allele was investigated in 1649 unrelated subjects from 13 ...
I, Yuasa, K, Umetsu, S, Harihara, A, Kido, A, Miyoshi, N, Saitou, B, Dashnyam, F, Jin, G, Lucotte, P K, Chattopadhyay, L, Henke, J, Henke   +11 more
openaire   +2 more sources

Polymorphisms of the MATP/SLC45A2 gene and susceptibility to melanoma in the French population

Journal of Clinical Oncology, 2008
11040 Background: Loss-of-function variants in the melanocortin 1 receptor gene (MC1R) are low penetrant melanoma predisposing alleles. Methods: A cohort comprising 1,019 patients affected by melanoma (MelanCohort) and 1,466 Caucasian controls skin cancer-free were studied. Ten polymorphisms, including five functional MC1R alleles (R151C, R160W, D294H,
N. Soufir, M. Guedj, A. Bourrillon, C. Combadieres, V. Descamps, N. Dupin, P. Wolkenstein, C. Lebbe, N. Basset- Seguin, P. Saiag, B. Grandchamp   +10 more
openaire   +1 more source

Promoter polymorphisms in theMATP(SLC45A2) gene are associated with normal human skin color variation

Human Mutation, 2007
Human pigmentation is a complex physical trait in which the membrane-associated transporter protein (MATP) plays an important role as it is involved in intracellular processing and trafficking of melanosomal proteins. Recently, pathogenic mutations in MATP have been shown to cause oculocutaneous albinism type 4, while other polymorphisms are known to ...
Graf, Justin, Voisey, Joanne, Hughes, Ian, van Daal, Angela   +3 more
openaire   +3 more sources