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Oligosyndactylism mice have an inversion of chromosome 8

Thomas L Wise1, Dimitrina D Pravtcheva

  • 1Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.

Genetics
|December 22, 2004
PubMed

Insights

The Oligosyndactylism (Os) mutation causes limb and kidney defects by inverting a segment of chromosome 8, disrupting the Anapc10 gene. This structural change leads to abnormal gene expression and developmental abnormalities in mice.

Area of Science:

  • Developmental Biology
  • Genetics
  • Molecular Biology

Background:

  • The Oligosyndactylism (Os) mutation in mice causes limb and kidney defects in heterozygotes and embryonic lethality in homozygotes.
  • Previous studies linked cell cycle arrest in Os and related mutations to the Anapc10 (Apc10/Doc1) gene.

Purpose of the Study:

  • To investigate the genetic basis of limb and kidney abnormalities in Os mice.
  • To characterize the structural chromosomal changes associated with the Os mutation.

Main Methods:

  • Detailed cytogenetic analysis of chromosome 8 in Os mice.
  • Molecular characterization of gene expression near the mutation breakpoints.
  • Complementation testing by transferring the Os mutation to different mouse genetic backgrounds.

Main Results:

  • The Os mutation involves a chromosomal inversion on chromosome 8, with breaks approximately 5 cM apart.
  • An abnormal Anapc10 hybrid transcript was detected in Os mice, involving sequences near the distal break.
  • Strain background did not account for the lack of dominant effects observed in a previously studied transgenic line.

Conclusions:

  • The chromosomal inversion in Os mice disrupts gene structure or regulation, leading to developmental defects.
  • Further research is needed to determine if gene interruption or long-range effects cause the dominant Os phenotypes.

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