title: Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region.
abstract: We have characterised a 2.4-Mb genomic sequence of a smallest region of overlap (SRO) deleted in the human microdeletion syndrome 7p21 by in silico analysis. Patients harbouring this minimal deletion present in addition to the clinical features of Saethre-Chotzen syndrome (MIM 101400) a distinct learning disability. This genomic region shows a very low gene content. Besides the transcription factor gene TWIST, the Histone Deacetylase 9 (HDAC9), Sorting Nexin 13 (SNX13) and an evolutionarily conserved bHLH transcription factor gene Nephew of Atonal 3 (HNATO3) have been detected previously. Here we describe the localisation and characterisation of the TWIST NEIGHBOR (TWISTNB) gene. Comparison of the predicted proteins of human TWISTNB and mouse Twistnb shows a high degree of conservation. Northern blot analysis of human fetal and adult tissues shows ubiquitous expression in all tissues tested.
authors.affiliation: Institut für Allgemeine Humangenetik, Philipps-Universität Marburg, Marburg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Kosan
authors.forename: J
authors.initials: J
authors.lastname: Kunz
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D017931:DNA Primers; D006801:Humans; D008969:Molecular Sequence Data; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers; C470021:POLR1F protein, human; D011506:Proteins