Conflict of interest: none.
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome
Article first published online: 14 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 1961–1971, August 2013
How to Cite
2013. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. Am J Med Genet Part A. 161A:1961–1971., , .
- Issue published online: 24 JUL 2013
- Article first published online: 14 JUN 2013
- Manuscript Accepted: 3 MAY 2013
- Manuscript Received: 18 JAN 2013
- March of Dimes Birth Defects Foundation. Grant Number: 6-FY03-69
- American Cancer Society. Grant Number: RSG-06-190-01-MGO
- Swedish Research Council
- Lauri Strauss Leukemia Foundation
Additional supporting information may be found in the online version of this article at the publisher's web-site.
FIG. S1. MutantTrp63 alleles are homozygous lethal. a: Trp63R279HN/R279HN, Trp63R279H/R279H, and Trp63Aam3/Aam3 are each lethal when homozygous; neonates have severe limb defects and lack of a mature skin barrier. Shown are Trp63R279HN/R279HN, and Trp63R279H/R279H embryos at day 16.5, Trp63Aam3/Aam3 embryo at day 18.5. b: Trp63R279H/R279H embryos are distinct from Trp63R279HN/R279HN and Trp63Aam3/Aam3 embryos, as K14 and K6 are detected at E18.5. Black bar, 500 μm. White bar, 100 μm.
FIG. S2. Skin development is not affected in Trp63Aam1-R279HN/+ or Trp63Aam2-R279H/+ neonates and embryos. a: There are no detectable abnormalities of the epidermis at postnatal day 0 via detection of Trp63, K14, K10, K6, or fillagrin. However, we noted more intense Trp63 expression throughout the epidermis of Trp63R279HN/+ mice (see Fig. 7 for quantitation of intensity); (b) are no detectable abnormalities of the skin at E16.5. Black bar, 500 μm; white bar, 100 μm.
FIG S3. The dermis and epidermis are affected by loss of wild type TAp63. At P0, Trp63R279NH/TA− (a), Trp63R279H/TA− (b), and Trp63Aam3/TA− (c) mice display a thickening of the stratum basale and stratum spinosum as indicated by the expanded zone of Trp63 (red), K14, and K10 (green) expression. This is apparent by histopathology, where one can also detect an increased thickness of the dermis. The K6 signal observed in stratum corneum is an artifact, as it is also present in the negative control. Black bar, 500 μm; white bar, 100 μm.
TABLE SI. Transmission of the Trp63Aam3 Allele at Weaning Is Gender Biased.
TABLE SII. The Penetrance of EEC-Like Features Is Mediated by Wild Type TAp63.
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