Nature genetics · 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Lower Karen M, Turner Gillian, Kerr Bronwyn A, Mathews Katherine D, Shaw Marie A, Gedeon Agi K, Schelley Susan, Hoyme H Eugene, White Susan M, Delatycki Martin B, Lampe Anne K, Clayton-Smith Jill, Stewart Helen, van Ravenswaay Conny M A, de Vries Bert B A, Cox Barbara, Grompe Markus, Ross Shelley, Thomas Paul, Mulley John C, Gécz Jozef
Аннотация
Börjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Previously, the gene associated with BFLS was localized to 17 Mb in Xq26-q27 (refs 2-4). We have reduced this interval to roughly 9 Mb containing more than 62 genes. Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS. Transient transfection studies with PHF6 tagged with green fluorescent protein (GFP) showed diffuse nuclear staining with prominent nucleolar accumulation. Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription.
Предметные рубрики MeSH
Amino Acid MotifsAmino Acid SequenceAmino Acid SubstitutionAnimalsCell NucleolusCell NucleusEmbryo, MammalianFemaleGenetic Predisposition to DiseaseGreen Fluorescent ProteinsHeLa CellsHeterozygoteHumansIntellectual DisabilityLuminescent ProteinsMaleMiceMicrosatellite RepeatsMolecular Sequence DataMutationMutation, MissensePedigreePhysical Chromosome MappingSequence AlignmentSyndromeTransfectionX ChromosomeZinc Fingers