Function of retinoic acid receptor gamma in the mouse.

Abstract:

:Null mutant mice for retinoic acid receptor gamma 2 (RAR gamma 2) or all RAR gamma isoforms were generated. RAR gamma 2 mutants appeared normal, whereas RAR gamma mutants exhibited growth deficiency, early lethality, and male sterility due to squamous metaplasia of the seminal vesicles and prostate. These defects were previously observed in vitamin A-deficient animals and could be prevented by RA administration, demonstrating that RAR gamma mediates some of the retinoid signal in vivo. Congenital defects included Harderian gland agenesis, tracheal cartilage malformations, and homeotic transformations along the rostral axial skeleton, establishing a direct link between RA and patterning of the axial skeleton. We also show that in utero RA-induced lumbosacral truncations are mediated by RAR gamma. The observed RAR gamma null phenotype suggests a high degree of functional redundancy among the RARs. The variable penetrance of some of the observed defects is discussed in light of this redundancy and stochastic variation of gene activity.

journal_name

Cell

journal_title

Cell

authors

Lohnes D,Kastner P,Dierich A,Mark M,LeMeur M,Chambon P

doi

10.1016/0092-8674(93)90246-m

subject

Has Abstract

pub_date

1993-05-21 00:00:00

pages

643-58

issue

4

eissn

0092-8674

issn

1097-4172

pii

0092-8674(93)90246-M

journal_volume

73

pub_type

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