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Genetic regulation of the limb development.

Publication

Abstract

This work summarises our sudies concerning limb development using three experimental models: polydactylous SHR.Lx rat, hypodactylous hd rat, c-myb null mouse. It leads to change in Plzf expression pattern in developing limb and consequently in expression patterns of other genes.

A 2,964-bp deletion in Plzf intron 2, never detected in control animals, is the only candidate for Lx. hd mutation is caused by an insertion of an endogenous retrovirus into intron the Cntrob gene. The retroviral insertion in hd mutant rats disrupts the normal splicing of Cntrob transcripts and results in the translation of a truncated protein.

Spermatogenesis is impaired in hd muatants also. c-myb is expressed in early stages of developing limbs but is dispensable for these stages.