Lufkin T, Lohnes D, Mark M, Dierich A, Gorry P, Gaub M P, LeMeur M, Chambon P
Laboratoire de Génétique Moléculaire des Eucaryotes du Centre National de la Recherche Scientifique, Faculté de Médecine, Strasbourg, France.
Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7225-9. doi: 10.1073/pnas.90.15.7225.
Retinoic acid (RA) plays a critical role in normal development, growth, and maintenance of certain tissues. The action of RA is thought to be mediated in part by the three nuclear receptors (RAR alpha, -beta, and -gamma), each of which is expressed as multiple isoforms. To investigate the function of the RAR alpha gene, we have disrupted, in the mouse, the whole gene or the isoform RAR alpha 1. Although RAR alpha 1 is the predominant isoform and is highly conserved among vertebrates, RAR alpha 1-null mice appeared normal. However, targeted disruption of the whole RAR alpha gene resulted in early postnatal lethality and testis degeneration. These results, showing that RAR alpha is indeed involved in the transduction of the RA signal, also suggest an unexpected genetic redundancy.
视黄酸（RA）在某些组织的正常发育、生长和维持中起着关键作用。RA的作用被认为部分是由三种核受体（RARα、-β和-γ）介导的，每种受体都以多种亚型的形式表达。为了研究RARα基因的功能，我们在小鼠中破坏了整个基因或亚型RARα1。尽管RARα1是主要的亚型，并且在脊椎动物中高度保守，但RARα1基因敲除小鼠看起来正常。然而，整个RARα基因的靶向破坏导致出生后早期死亡和睾丸退化。这些结果表明RARα确实参与了RA信号的转导，也暗示了意外的基因冗余。
