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Disruption of Apc10/Doc1 in three alleles of oligosyndactylism

D D Pravtcheva1, T L Wise

  • 1Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, New York 10314, USA. pravtcdd@sprintmail.com

Genomics
|March 15, 2001
PubMed

Insights

Oligosyndactylism (Os) is a radiation-induced mutation causing developmental defects and lethality. Disruption of the APC10/DOC1 gene explains the mitotic arrest observed in Os mice.

Area of Science:

  • Developmental Biology
  • Genetics
  • Cell Biology

Background:

  • Oligosyndactylism (Os) is a radiation-induced mutation in mice.
  • It exhibits recessive lethality and dominant effects on limb and kidney development.
  • The lethal phenotype is linked to a cell-autonomous block in metaphase-to-anaphase transition.

Purpose of the Study:

  • To identify the genetic basis of Oligosyndactylism (Os).
  • To understand the molecular mechanisms underlying the observed developmental defects and lethality.
  • To investigate the role of the anaphase-promoting complex in Os.

Main Methods:

  • Characterization of two transgene-induced mutations (94-A and 94-K) allelic to Os.
  • Identification of genomic segments and transcribed sequences in the affected region.
  • Analysis of the mouse homolog of anaphase-promoting complex component APC10/DOC1.

Main Results:

  • Two transgene-induced mutations, 94-A and 94-K, were found to be allelic with Os.
  • Genomic analysis identified candidate genes within the Os-affected region.
  • A transcript corresponding to the mouse homolog of APC10/DOC1 was identified in this region.

Conclusions:

  • The disruption of the APC10/DOC1 gene is the likely cause of the Oligosyndactylism (Os) mutation.
  • This gene disruption explains the mitotic arrest phenotype observed in Os alleles.
  • APC10/DOC1 plays a critical role in cell cycle progression and development.

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