Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly REPORT

Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly REPORT

Cached

Download Links

[www.tweelingenregister.org]

by N. A. Oates , J. Van Vliet , D. L. Duffy , H. Y. Kroes , N. G. Martin , D. I. Boomsma , M. Campbell , M. G. Coulthard , E. Whitelaw , S. Chong

Citations:

1 - 0 self

BibTeX

@MISC{Oates_increaseddna,
    author = {N. A. Oates and J. Van Vliet and D. L. Duffy and H. Y. Kroes and N. G. Martin and D. I. Boomsma and M. Campbell and M. G. Coulthard and E. Whitelaw and S. Chong},
    title = {Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly REPORT},
    year = {}
}

Bookmark

OpenURL

Abstract

The AXIN1 gene has been implicated in caudal duplication anomalies. Its coding region was sequenced in both members of a monozygotic (MZ) twin pair discordant for a caudal duplication anomaly, but no mutation was found. Using bisulfite sequencing, we examined methylation at the promoter region of the AXIN1 gene in these twins and in twin and agematched singleton controls. Methylation of the promoter region in peripheral blood mononucleated cells was variable among individuals, including MZ pairs. In the MZ pair discordant for the caudal duplication, this region of the affected twin was significantly more methylated than that of the unaffected twin ( P!.0001), which was significantly more methylated than those of the controls ( P p.02). We have confirmed that this CpG island does function as a promoter in vitro and that its activity is inversely proportional to the extent of methylation. This finding raises the possibility that hypermethylation of the AXIN1 promoter, by mechanisms as yet undetermined, is associated with the malformation. This case may be paradigmatic for some cases of MZ discordance. The high rate of discordance in MZ pairs for most complex diseases is a continuing puzzle. Vague statements that “the environment ” is responsible for this discordance are seldom

Citations

134	Core Team (2005) R: A language and environment for statistical computing. Vienna: R Foundation for Statistical Computing. Available: http://www.R-project.org. Accessed 08 - Development - 2005
75	D: lme4: Linear mixed-effects models using S4 classes - Bates, Sarkar
15	A twin-pronged attack on complex traits. Nat Genet - Martin, Boomsma, et al. - 1997
12	E: Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission - VK, Chong, et al.
11	JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation - RC, HY, et al. - 1992
10	WA: Association of tissue-specific differentially methylated regions (TDMs) with differential gene expression - Song, JF, et al.
7	Jirtle RL. 2003. Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol 23:5293–5300 - RA
5	High sensitivity mapping of methylated cytosines. Nucleic Acids Res 22: 2990–2997. increased chromosomes in both MCF7-G9a-KD and H11299G9a-KD cell lines. D, Centrosomes were detected using an antibody against c-tubulin - SJ, Harrison, et al. - 1994
5	methylation profiling of the human major histocompatibility complex: a pilot study for the Human Epigenome Project. PLoS Biology 2004 - VK, Hildmann, et al.
4	Soejima H, Uchiyama M, Iwasaka T, Mukai T, Sakaki Y, Ito T: A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q - Yamada, Watanabe, et al.
4	The relationship between chromosome structure and function at a human telomeric region - Flint, Thomas, et al. - 1997
3	A genome scan for eye color in 502 twin families: Most variation is due to a QTL on Chromosome 15q. Twin Res 7 - Zhu, DM, et al. - 2004
1	Schizophrenia and manic-depressive disorder: the biological roots of mental illness as revealed by the landmark study of identical twins. Basic - EF, AE, et al. - 1994
1	Cederlof R, Friberg L - Floderus - 1988
1	Popendikyte V (2003) Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance? Schizophr Bull 29:169–178 - Petronis, P, et al.
1	Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ (2002) Two cases of the caudal duplication anomaly including a discordant monozygotic twin. Am J Med Genet 112:390–393 - HY, Takahashi
1	Caudal duplication syndrome - Dominguez, Rott, et al. - 1993
1	XJ, Zhang T, Costantini F, Tilghman SM - TJ, Zeng, et al. - 1997
1	Vasicek TJ, Perry WL 3rd - Zeng, Fagotto, et al. - 1997
1	CpG island methylator phenotype - JP - 2004
1	Ropero S, Setien F, Ballestar ML, www.ajhg.org The American Journal of Human Genetics Volume 79 July 2006 161 D - MF, Ballestar, et al. - 2005
1	DR (2001) Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum Mol Genet 10:339–352 - RJ, JF, et al.
1	Tuan D (2002) The solitary long terminal repeats of ERV-9 endogenous retrovirus are conserved during primate evolution and possess enhancer activities in embryonic and hematopoietic cells. J Virol 76:2410–2423 - Ling, Pi, et al.
1	Commitment to X inactivation precedes the twinning event in monochorionic MZ twins. Am J Hum Genet 63:339–346 - Monteiro, Derom, et al. - 1998
1	Frieman MB, Feinberg AP (2002) A genome-wide screen for normally methylated human CpG islands that can identify novel imprinted genes. Genome Res 12:543–554 - LZ, RS, et al.
1	Influence of maternal phenotype on metabolic differentiation of agouti locus mutants in the mouse. Genetics 88:529–539 - GL - 1978
1	AA, Wolff GL (2002) Maternal methyl supplements in mice affect epigenetic variation and DNA methylation of offspring - CA, Dave
1	Oakeley EJ, Haase M, Lam WL, Schubeler D (2005) Chromosome-wide and promoter-specific analyses identify sites of differential DNA methylation in normal and transformed human cells. Nat Genet 37:853–862 - Weber, JJ, et al.
1	Ayyub H, Wood WG, Higgs DR (2003) Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat Genet 34:157–165 - Tufarelli, JA, et al.
1	Some causes of genotypic and phenotypic discordance in monozygotic twin pairs - GA - 1996