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

Research output: Contribution to journalArticle

40 Citations (Scopus)

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

Cite this

Monosomy for the most telomeric, gene-rich region of human chromosome 16p causes minimal phenotypic effects. / Horsley, S. W.; Daniels, R. J.; Anguita, E.; Raynham, H. A.; Peden, J. F.; Villegas, A.; Vickers, Mark Adrian.

In: EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , Vol. 9, 2001, p. 217-225.

Research output: Contribution to journalArticle

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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.",
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T1 - Monosomy for the most telomeric, gene-rich region of human chromosome 16p causes minimal phenotypic effects

AU - Horsley, S. W.

AU - Daniels, R. J.

AU - Anguita, E.

AU - Raynham, H. A.

AU - Peden, J. F.

AU - Villegas, A.

AU - Vickers, Mark Adrian

PY - 2001

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N2 - 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.

AB - 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.

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KW - band 16p13.3

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KW - haploinsufficiency

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KW - ATR-16

KW - alpha globin

KW - ZETA-GLOBIN GENE

KW - ALPHA-GLOBIN

KW - LENGTH POLYMORPHISM

KW - MOLECULAR ANALYSIS

KW - FAR UPSTREAM

KW - FUSED GENE

KW - THALASSEMIA

KW - CLUSTER

KW - DELETION

KW - SEQUENCES

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DO - 10.1038/sj.ejhg.5200610

M3 - Article

VL - 9

SP - 217

EP - 225

JO - EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.

JF - EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.

SN - 1018-4813

ER -