title: Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
abstract: We have examined the phenotypic effects of 21 independent deletions from the fully sequenced and annotated 356 kb telomeric region of the short arm of chromosome 16 (16p13.3). Fifteen genes contained within this region have been highly conserved throughout evolution and encode proteins involved in important housekeeping functions, synthesis of haemoglobin, signalling pathways and critical developmental pathways. Although a priori many of these genes would be considered candidates for critical haploinsufficient genes, none of the deletions within the 356 kb interval cause any discernible phenotype other than alpha thalassaemia whether inherited via the maternal or paternal line. These findings contrast with previous observations on patients with larger (> 1 Mb) deletions from the 16p telomere and therefore address the mechanisms by which monosomy gives rise to human genetic disease.
authors: MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
authors: S W
authors: SW
authors: Horsley
authors: R J
authors: RJ
authors: Daniels
authors: E
authors: E
authors: Anguita
authors: H A
authors: HA
authors: Raynham
authors: J F
authors: JF
authors: Peden
authors: A
authors: A
authors: Villegas
authors: M A
authors: MA
authors: Vickers
authors: S
authors: S
authors: Green
authors: J S
authors: JS
authors: Waye
authors: D H
authors: DH
authors: Chui
authors: H
authors: H
authors: Ayyub
authors: A B
authors: AB
authors: MacCarthy
authors: V J
authors: VJ
authors: Buckle
authors: R J
authors: RJ
authors: Gibbons
authors: L
authors: L
authors: Kearney
authors: D R
authors: DR
authors: Higgs
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009006:Monosomy; D010641:Phenotype; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid; D016615:Telomere