title: A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11.
abstract: A Drosophila-related expressed sequence tag (DRES) with sequence similarity to the peanut gene has previously been localized to human chromosome 22q11. We have isolated the cDNA corresponding to this DRES and show that it is a novel member of the family of septin genes, which encode proteins with GTPase activity thought to interact during cytokinesis. The predicted protein has P-loop nucleotide binding and GTPase motifs. The gene, which we call PNUTL1, maps to the region of 22q11.2 frequently deleted in DiGeorge and velo-cardio-facial syndromes and is particularly highly expressed in the brain. The mouse homologue, Pnutl1, maps to MMU16 adding to the growing number of genes from the DiGeorge syndrome region that map to this chromosome.
authors.affiliation: Molecular Medicine Unit, Institute of Child Health, London, UK.
authors.forename: J M
authors.initials: JM
authors.lastname: McKie
authors.forename: H F
authors.initials: HF
authors.lastname: Sutherland
authors.forename: E
authors.initials: E
authors.lastname: Harvey
authors.forename: U J
authors.initials: UJ
authors.lastname: Kim
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics*; D029721:Drosophila Proteins; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D015870:Gene Expression; D017344:Genes, Insect; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D019476:Insect Proteins / Q000235:genetics; D051379:Mice; D008840:Microfilament Proteins; D008969:Molecular Sequence Data; D011247:Pregnancy; D058112:Septins; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D018797:Cell Cycle Proteins; D017931:DNA Primers; D018076:DNA, Complementary; D029721:Drosophila Proteins; D019476:Insect Proteins; D008840:Microfilament Proteins; C087195:pnut protein, Drosophila; D020558:GTP Phosphohydrolases; C109366:SEPTIN5 protein, human; C491612:Sept5 protein, mouse; D058112:Septins