Abstract
BackgroundThe promyelocytic leukemia zinc finger gene Plzf (also called Zbtb16, Zfp145 or Green's luxoid) belongs to the POZ/zinc-finger family of transcription factors. It contains a BTB/POZ domain that mediates epigenetic transcriptional repression. PLZF is essential for proper skeleton patterning and male germ cell renewal. Two alleles have been reported that display similar phenotypes: a targeted knock-out, and the spontaneous nonsense mutation luxoid.ResultsWe describe a new ENU induced missense allele of Plzf called seven toes (Plzf7t). Homozygous animals exhibit hindlimb and axial skeleton abnormalities. Whereas the skeletal abnormalities are similar to those of the other alleles, Plzf7t differs in that it does not cause spermatogonial depletion and infertility. Positional cloning revealed a point mutation changing the evolutionarily conserved amino acid Glu44 to Gly, possibly altering the BTB domain's activity.ConclusionsPlzf7t is a separation-of-function allele that reveals differential requirements for domains of PLZF in different developmental milieus.
Highlights
The promyelocytic leukemia zinc finger gene Plzf belongs to the POZ/zinc-finger family of transcription factors
A critical function of Promyelocytic Leukemia Zinc Finger (PLZF) is in spermatogonial stem cell renewal
A variation was detected in Plzf, which consists of 7 exons spanning 181.6 kb of genomic DNA (Fig. 1b)
Summary
The promyelocytic leukemia zinc finger gene Plzf ( called Zbtb, Zfp145 or Green’s luxoid) belongs to the POZ/zinc-finger family of transcription factors. It contains a BTB/POZ domain that mediates epigenetic transcriptional repression. The spontaneous mutation luxoid (lu), later shown to be an allele of Plzf, is characterized by similar, albeit semidominant, limb abnormalities and recessive skeletal defects [3,4,5]. A critical function of PLZF is in spermatogonial stem cell renewal Both the null and luxoid alleles cause progressive male infertility due to depletion of the spermatogonial stem cell pool with age [3,6]. PLZF is present as nuclear foci in Type A-single (putative stem cells), A-paired (undifferentiated spermatogonia), and Aaligned (differentiating) spermatogonia, but not the more differentiated Type B spermatogonia or in subsequent meiotic spermatocytes or postmeiotic spermatids [3]
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