Erratum: A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis (PLoS ONE (2012) 7:11 (e50634) DOI:10.1371/journal.pone.0050634);A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Tao, Jianning ^a   Koster, Maranke I ^b   Harrison, Wilbur ^a   Moran, Jennifer L ^c   Beier, David R ^c   Roop, Dennis R ^a,b   Overbeek, Paul A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A SYNTHETASE; COMPLEMENTARY DNA; FATTY ACID TRANSPORTER 4; VERY LONG CHAIN FATTY ACID;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 2; EPIDERMIS; EXON; EXPERIMENTAL MOUSE; FATP4 GENE; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENE LOSS; GENE MAPPING; GENE SEQUENCE; GENETIC CONSERVATION; HAIR FOLLICLE; HISTOPATHOLOGY; HYPERKERATOSIS; ICHTHYOSIS; IMMOBILIZATION; MOUSE; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; PHENOTYPE; PROTEIN DOMAIN; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS MUTATION; STRATUM BASALE (EPIDERMIS); STRATUM CORNEUM; STRATUM GRANULOSUM (EPIDERMIS); STRATUM SPINOSUM (EPIDERMIS); TERMINAL SEQUENCE;

EID: 84870622719     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0091624     Document Type: Erratum

References (46)

1. Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M, (2008) Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 49: 697-714.
2. Proksch E, Brandner JM, Jensen JM (2008) The skin: an indispensable barrier. Exp Dermatol.
3. Pouillot A, Dayan N, Polla AS, Polla LL, Polla BS, (2008) The stratum corneum: a double paradox. J Cosmet Dermatol 7: 143-148.
4. Watkins PA, (2008) Very-long-chain acyl-CoA synthetases. J Biol Chem 283: 1773-1777.
5. Zou Z, DiRusso CC, Ctrnacta V, Black PN, (2002) Fatty acid transport in Saccharomyces cerevisiae. Directed mutagenesis of FAT1 distinguishes the biochemical activities associated with Fat1p. J Biol Chem 277: 31062-31071.
6. DiRusso CC, Darwis D, Obermeyer T, Black PN, (2008) Functional domains of the fatty acid transport proteins: studies using protein chimeras. Biochim Biophys Acta 1781: 135-143.
7. Gimeno RE, (2007) Fatty acid transport proteins. Curr Opin Lipidol 18: 271-276.
8. Moulson CL, Lin MH, White JM, Newberry EP, Davidson NO, et al. (2007) Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice. J Biol Chem 282: 15912-15920.
9. Herrmann T, Grone HJ, Langbein L, Kaiser I, Gosch I, et al. (2005) Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency. J Invest Dermatol 125: 1228-1235.
10. Herrmann T, van der HF, Grone HJ, Stewart AF, Langbein L, et al. (2003) Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. J Cell Biol 161: 1105-1115.
11. Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, et al. (2009) Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 85: 248-253.
12. Moulson CL, Martin DR, Lugus JJ, Schaffer JE, Lind AC, et al. (2003) Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development. Proc Natl Acad Sci U S A 100: 5274-5279.
13. Gimeno RE, Hirsch DJ, Punreddy S, Sun Y, Ortegon AM, et al. (2003) Targeted deletion of fatty acid transport protein-4 results in early embryonic lethality. J Biol Chem 278: 49512-49516.
14. Armbrust S, Hoffmann R, Jochum F, Neumann LM, Fusch C, (2005) Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms. Arch Dermatol 141: 611-613.
15. Navarro CL, Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, et al. (2004) Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 13: 2493-2503.
16. Oji V, Tadini G, Akiyama M, Blanchet BC, Bodemer C, et al. (2010) Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol 63: 607-641.
17. Khnykin D, Miner JH, Jahnsen F, (2011) Role of fatty acid transporters in epidermis: Implications for health and disease. Dermatoendocrinol 3: 53-61.
18. Chen Q, Liang D, Overbeek PA, (2008) Overexpression of E2F5/p130, but not E2F5 alone, can inhibit E2F-induced cell cycle entry in transgenic mice. Mol Vis 14: 602-614.
19. Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, et al. (2006) Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res 16: 436-440.
20. Koster MI, Kim S, Mills AA, DeMayo FJ, Roop DR, (2004) p63 is the molecular switch for initiation of an epithelial stratification program. Genes Dev 18: 126-131.
21. Yuspa SH, Kilkenny AE, Steinert PM, Roop DR, (1989) Expression of murine epidermal differentiation markers is tightly regulated by restricted extracellular calcium concentrations in vitro. J Cell Biol 109: 1207-1217.
22. Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, et al. (1999) p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398: 708-713.
23. Jia Z, Moulson CL, Pei Z, Miner JH, Watkins PA, (2007) Fatty Acid Transport Protein 4 Is the Principal Very Long Chain Fatty Acyl-CoA Synthetase in Skin Fibroblasts. J Biol Chem 282: 20573-20583.
24. Lawson KA, Dunn NR, Roelen BA, Zeinstra LM, Davis AM, et al. (1999) Bmp4 is required for the generation of primordial germ cells in the mouse embryo. Genes Dev 13: 424-436.
25. Reneker LW, Chen Q, Bloch A, Xie L, Schuster G, et al. (2004) Chick delta1-crystallin enhancer influences mouse alphaA-crystallin promoter activity in transgenic mice. Invest Ophthalmol Vis Sci 45: 4083-4090.
26. Schneider C, Rasband W, Eliceiri E, (2012) NIH Image to ImageJ: 25 years of image analysis. Nat Methods 9: 671-675.
27. Umemoto H, Akiyama M, Yanagi T, Sakai K, Aoyama Y, et al. (2011) New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis. J Dermatol Sci 61: 136-139.
28. Morice-Picard F, Leaute-Labreze C, Decor A, Boralevi F, LaCombe D, et al. (2010) A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis. Am J Med Genet A 152A: 2664-2665.
29. Khnykin D, Ronnevig J, Johnsson M, Sitek JC, Blaas HG, et al. (2012) Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. J Am Acad Dermatol 66: 606-616.
30. Inhoff O, Hausser I, Schneider SW, Khnykin D, Jahnsen FL, et al. (2011) Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant. Arch Dermatol 147: 750-752.
31. Sobol M, Dahl N, Klar J, (2011) FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome. BMC Res Notes 4: 90.
32. Paus R, Cotsarelis G, (1999) The biology of hair follicles. N Engl J Med 341: 491-497.
33. Vielkind U, Hardy M, (1996) Changing patterns of cell adhesion molecules during mouse pelage hair follicle development. 2. Follicle morphogenesis in the hair mutants, Tabby and downy. Acta Anat (Basel) 157: 183-194.
34. Davidson P, Hardy M, (1952) The development of mouse vibrissae in vivo and in vitro. J Anat 86: 342-356.
35. Kulessa H, Turk G, Hogan BL, (2000) Inhibition of Bmp signaling affects growth and differentiation in the anagen hair follicle. EMBO J 19: 6664-6674.
36. Rendl M, Polak L, Fuchs E, (2008) BMP signaling in dermal papilla cells is required for their hair follicle-inductive properties. Genes Dev 22: 543-557.
37. Byrne C, Tainsky M, Fuchs E, (1994) Programming gene expression in developing epidermis. Development 120: 2369-2383.
38. Richard G, Bale SJ (2001) Autosomal Recessive Congenital Ichthyosis. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993.
39. Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, et al. (2008) Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet 17: 3075-3083.
40. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, et al. (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267: 525-528.
41. Hopkin AS, Gordon W, Klein RH, Espitia F, Daily K, et al. (2012) GRHL3/GET1 and Trithorax Group Members Collaborate to Activate the Epidermal Progenitor Differentiation Program. PLoS Genet 8: e1002829.
42. Ting SB, Caddy J, Wilanowski T, Auden A, Cunningham JM, et al. (2005) The epidermis of grhl3-null mice displays altered lipid processing and cellular hyperproliferation. Organogenesis 2: 33-35.
43. Roca X, Olson AJ, Rao AR, Enerly E, Kristensen VN, et al. (2008) Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res 18: 77-87.
44. Bhasi A, Pandey RV, Utharasamy SP, Senapathy P, (2007) EuSplice: a unified resource for the analysis of splice signals and alternative splicing in eukaryotic genes. Bioinformatics 23: 1815-1823.
45. Shapiro MB, Senapathy P, (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15: 7155-7174.
46. Yusa K, Rashid ST, Strick-Marchand H, Varela I, Liu PQ, et al. (2011) Targeted gene correction of alpha1-antitrypsin deficiency in induced pluripotent stem cells. Nature 478: 391-394.