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MeSH Review:

Anticipation, Genetic

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Disease relevance of Anticipation, Genetic

In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported [1].
Families with a variant transthyretin (TTR V30M)-associated familial amyloidotic polyneuropathy (FAP) exhibit genetic anticipation, with TTR V30M-amyloid depositing at an earlier age in successive generations [2].
In addition, this SCA6 family showed some characteristic clinical and genetic features, including (1) apparent lack of genetic anticipation, with an intergenerationally stable CAG repeat size and (2) down-beat nystagmus and diabetes mellitus in some of the SCA6 patients [3].

High impact information on Anticipation, Genetic

This fact, when viewed in conjunction with the tendency to increased CTG repeat length in our DM kindreds, provides evidence for the existence of genetic anticipation in the transmission of DM [4].
Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, such as genetic anticipation [5].
We conclude that genetic anticipation occurs in this sample of unilineal BPAD families [6].
Dentatorubral-pallidoluysian atrophy (DRPLA) is known to show the most prominent genetic anticipation among CAG repeat diseases [7].
An increased polyglutamine chain size leads to a more severe disease, thus correlating with the genetic anticipation seen in repeat expansion disorders [8].

Biological context of Anticipation, Genetic

CAGR1 is a recently characterised polymorphic trinucleotide repeat localised to 13q13, which has been suggested as a possible candidate gene for neurological disorders that manifest genetic anticipation [9].

Associations of Anticipation, Genetic with chemical compounds

Various facets of epigenetics are reevaluated through their putative relevance to four theories of schizophrenia: neurodevelopmental, dopamine dysfunction, viral, and genetic anticipation with unstable DNA [10].

Gene context of Anticipation, Genetic

Suggestive evidence of genetic anticipation was obtained, but should be confirmed in other SPG12 families [11].
Genetic anticipation has been reported for all of them except for the recently cloned SCA6 gene [12].
Our results demonstrate that unstable CAG/CTG expansions corresponding to uncloned or cloned sequences (ERDA1, CTG18.1) are not involved in the etiology of rare familial case of PD with genetic anticipation [13].
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension [14].
Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia [15].

References

A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. Yamamoto, K., Ikeda, S., Hanyu, N., Takeda, S., Yanagisawa, N. J. Med. Genet. (1998) [Pubmed]
Deposition of transthyretin amyloid is not accelerated by the same amyloid in vivo. Wei, L., Kawano, H., Fu, X., Cui, D., Ito, S., Yamamura, K., Ishihara, T., Tokuda, T., Higuchi, K., Maeda, S. Amyloid (2004) [Pubmed]
A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene. Takiyama, Y., Sakoe, K., Namekawa, M., Soutome, M., Esumi, E., Ogawa, T., Ishikawa, K., Mizusawa, H., Nakano, I., Nishizawa, M. J. Neurol. Sci. (1998) [Pubmed]
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Tsilfidis, C., MacKenzie, A.E., Mettler, G., Barceló, J., Korneluk, R.G. Nat. Genet. (1992) [Pubmed]
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Monrós, E., Moltó, M.D., Martínez, F., Cañizares, J., Blanca, J., Vílchez, J.J., Prieto, F., de Frutos, R., Palau, F. Am. J. Hum. Genet. (1997) [Pubmed]
Anticipation in bipolar affective disorder. McInnis, M.G., McMahon, F.J., Chase, G.A., Simpson, S.G., Ross, C.A., DePaulo, J.R. Am. J. Hum. Genet. (1993) [Pubmed]
Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases. Takiyama, Y., Sakoe, K., Amaike, M., Soutome, M., Ogawa, T., Nakano, I., Nishizawa, M. Hum. Mol. Genet. (1999) [Pubmed]
An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Lindblad, K., Savontaus, M.L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L.J., Anttinen, A., Brice, A., Schalling, M. Genome Res. (1996) [Pubmed]
Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. Potter, N.T. J. Med. Genet. (1997) [Pubmed]
Schizophrenia: an epigenetic puzzle? Petronis, A., Paterson, A.D., Kennedy, J.L. Schizophrenia bulletin. (1999) [Pubmed]
Clinical and genetic study of a large Italian family linked to SPG12 locus. Orlacchio, A., Kawarai, T., Rogaeva, E., Song, Y.Q., Paterson, A.D., Bernardi, G., St George-Hyslop, P.H. Neurology (2002) [Pubmed]
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. Pujana, M.A., Volpini, V., Gratacós, M., Corral, J., Banchs, I., Sánchez, A., Genís, D., Cervera, C., Estivill, X. J. Med. Genet. (1998) [Pubmed]
Analysis of ERDA1, CTG18.1, and uncloned CAG/CTG repeat sequences in familial Parkinson's disease with anticipation. Schraen-Maschke, S., Brique, S., Chartier-Harlin, M.C., Brique, E., Destée, A., Sablonnière, B. Am. J. Med. Genet. (1999) [Pubmed]
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Loyd, J.E., Butler, M.G., Foroud, T.M., Conneally, P.M., Phillips, J.A., Newman, J.H. Am. J. Respir. Crit. Care Med. (1995) [Pubmed]
Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia. Cheng, J.T., Liu, A., Wasmuth, J., Liu, B.P., Truong, D. Neurology (1996) [Pubmed]

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