Detecting genomic signatures of natural selection with principal component analysis: application to the 1000 Genomes data.
Berkeley, United States. In Mol Biol Evol, Jan 2016
The correlations between genetic variation and each principal component provide well-known targets for positive selection (EDAR, SLC24A5, SLC45A2, DARC), and also new candidate genes (APPBPP2, TP1A1, RTTN, KCNMA, MYO5C) and non-coding RNAs.
MHC class I and II deficiencies.
Haifa, Israel. In J Allergy Clin Immunol, 2014
These transacting factors are the class II transactivator and 3 subunits of regulatory factor X (RFX): RFX containing ankyrin repeats (RFXANK), the fifth member of the RFX family (RFX5), and RFX-associated protein (RFXAP).
[Hypomelanoses transmitted from generation to generation].
Laizhou, China. In Postepy Hig Med Dosw (online), 2013
These disorders are represented by oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Menkes syndrome and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH.
Genome-wide detection and characterization of positive selection in human populations.
Cambridge, United States. In Nature, 2007
Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
When the lymphocyte loses its clothes.
Ljubljana, Slovenia. In Immunity, 2003
The type II bare lymphocyte syndrome (BLS) or major histocompatibility complex class II (MHCII) deficiency is a severe combined immunodeficiency (SCID) that is characterized by the absence of constitutive and inducible expression of MHCII determinants on immune cells.