Monoallelic expression on autosomes may explain an unusual heritable form of pigmentary mosaicism: A historical case revisited

Clinical and Experimental Dermatology

Volumn 34, Issue 7, 2009, Pages 834-837

  Happle, R ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DISORDER; AUTOSOME MOSAICISM; BLASCHKO LINE; DERMATOME; EPIGENETICS; FAMILIAL DISEASE; FAMILIAL PROGRESSIVE HYPERPIGMENTATION; GENE EXPRESSION; GENODERMATOSIS; HUMAN; HYPERPIGMENTATION; LONG INTERSPERSED REPEAT; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM;

ALLELES; EPIGENESIS, GENETIC; FEMALE; GENE EXPRESSION; HUMANS; HYPERPIGMENTATION; INFANT, NEWBORN; MALE; MOSAICISM; PEDIGREE; SKIN DISEASES, GENETIC; YOUNG ADULT;

EID: 70349499475     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2009.03543.x     Document Type: Article

References (22)

1. Chernosky ME, Anderson DE, Chang JP et al. Familial progressive hyperpigmentation. Arch Dermatol 1971 103 : 581 598.
2. Happle R. Paradominant inheritance: a possible explanation for Becker's pigmented hairy nevus. Eur J Dermatol 1992 2 : 39 40.
3. Ohlsson R, Tycko B, Sapienza C. Monoallelic expression: 'there can only be one'. Trends Genet 1998 14 : 435 438.
4. Goldmit M, Bergman Y. Monoallelic expression: a repertoire of recurrent themes. Immunol Rev 2004 200 : 197 214.
5. McClintock B. Chromosome organization and genic expression. Cold Spring Harb Symp Quant Biol 1951 16 : 13 47.
6. Martienssen RA, Colot V. DNA methylation and epigenetic inheritance in plants and filamentous fungi. Science 2001 293 : 1070 1074.
7. Guo M, Rupe MA, Zinselmeier C et al. Allelic variation of gene expression in maize hybrids. Cell 2004 16 : 1707 1716.
8. Chandler VL. Paramutation: from maize to mice. Cell 2007 128 : 641 645.
9. Whitelaw E, Martin DIK. Retrotransposons as epigenetic mediators of phenotypic variation in mammals. Nat Genet 2001 27 : 361 365.
10. Fraenkel S, Mostoslavsky R, Novobrantseva TI et al. Allelic 'choice' governs somatic hypermutation in vivo at the immunoglobulin kappa-chain locus. Nat Immunol 2007 8 : 715 722.
11. Rada C, Ferguson-Smith AC. Epigenetics: monoallelic expression in the immune system. Curr Biol 2002 12 : R108 10.
12. Zhou H, Brockington M, Jungbluth H et al. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet 2006 79 : 859 868. (Pubitemid 44763400)
13. Hatchwell E, Greally JM. The potential role of epigenomic dysregulation in complex human disease. Trends Genet 2007 23 : 588 595.
14. Gimelbrant A, Hutchinson JN, Thompson BR, Chess A. Widespread monoallelic expression on human autosomes. Science 2007 318 : 1136 1140.
15. Lyon MF. X-chromosome inactivation and human genetic disease. Acta Paediatr 2002 91 (Suppl. 439 107 112.
16. Ohlsson R. Widespread monoallelic expression. Science 2007 318 : 1077 1078.
17. Allen E, Horvath S, Tong F et al. High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes. Proc Natl Acad Sci USA 2003 100 : 9940 9945.
18. Happle R. Transposable elements and the lines of Blaschko: a new perspective. Dermatology 2002 204 : 4 7.
19. Alsaleh QA, Nanda A, Hassab-el-Naby HMM et al. Familial inflammatory linear verrucous epidermal nevus (ILVEN). Int J Dermatol 1994 33 : 52 4.
20. Horn D, Happle R, Neitzel H, Kunze J. Pigmentary mosaicism of the hyperpigmented type in two half-brothers. Am J Med Genet 2002 112 : 65 9.
21. Debao L, Ting L. Familial progressive hyperpigmentation: a family study in China. Br J Dermatol 1991 125 : 607.
22. Clark LA, Wahl JM, Rees CA, Murphy KE. Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci USA 2006 103 : 1376 1381.