Monosomy for the most telomeric, gene-rich region of human chromosome 16p causes minimal phenotypic effects

S. W. Horsley, R. J. Daniels, E. Anguita, H. A. Raynham, J. F. Peden, A. Villegas, Mark Adrian Vickers

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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.

Original languageEnglish
Pages (from-to)217-225
Number of pages8
JournalEJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.
Volume9
DOIs
Publication statusPublished - 2001

Keywords

  • chromosome 16
  • band 16p13.3
  • monosomy
  • haploinsufficiency
  • AXIN1
  • ATR-16
  • alpha globin
  • ZETA-GLOBIN GENE
  • ALPHA-GLOBIN
  • LENGTH POLYMORPHISM
  • MOLECULAR ANALYSIS
  • FAR UPSTREAM
  • FUSED GENE
  • THALASSEMIA
  • CLUSTER
  • DELETION
  • SEQUENCES

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