The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations

The imprinted gene and parent-of-origin effect database () consists of two sections. One section catalogues the current literature on imprinted genes in humans and animals. The second, and new, section catalogues current reports of parental origin of de novo mutations in humans alone. The addition of a catalogue of de novo mutations that show a parent-of-origin effect expands the scope of the database and provides a useful tool for examining parental origin trends for different types of spontaneous mutations. This new section includes >1700 mutations, found in 59 different disorders. The 85 imprinted genes are described in 152 entries from several mammalian species. In addition, >300 other entries describe a range of reported parent-of-origin effects in animals.

[1]  A. Munnich,et al.  Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. , 1998, American journal of human genetics.

[2]  W. Reik,et al.  Genomic imprinting: parental influence on the genome , 2001, Nature Reviews Genetics.

[3]  H. Spencer,et al.  A census of mammalian imprinting. , 2005, Trends in genetics : TIG.

[4]  J. Crow The origins, patterns and implications of human spontaneous mutation , 2000, Nature Reviews Genetics.

[5]  P. Huppke,et al.  MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. , 2001, American journal of human genetics.

[6]  M. Groenen,et al.  Genome-wide scan for body composition in pigs reveals important role of imprinting. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[7]  R. Lyle,et al.  The uniqueness of the imprinting mechanism. , 2000, Current opinion in genetics & development.

[8]  E. Keverne,et al.  The disparate maternal aunt-uncle ratio in male transsexuals: an explanation invoking genomic imprinting. , 2000, Journal of theoretical biology.

[9]  J. Chelly,et al.  Parental origin of de novo MECP2 mutations in Rett syndrome , 2001, European Journal of Human Genetics.

[10]  R. Wevrick,et al.  Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. , 2000, American journal of human genetics.

[11]  A. V. D. van den Ouweland,et al.  Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis , 2004, Human Genetics.

[12]  A. Reeve,et al.  A catalogue of imprinted genes and parent-of-origin effects in humans and animals. , 1998, Human molecular genetics.

[13]  B. Zbar,et al.  Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. , 1995, Human molecular genetics.

[14]  C. Lewis,et al.  Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. , 1999, American journal of human genetics.

[15]  H. Zoghbi,et al.  Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes , 2000, Annals of neurology.

[16]  R. Tenconi,et al.  Paternal origin of LMNA mutations in Hutchinson–Gilford progeria , 2003, Clinical genetics.

[17]  Rivka L. Glaser,et al.  Dear old dad. , 2004, Science of aging knowledge environment : SAGE KE.

[18]  Laura Scott,et al.  Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome , 2003, Nature.

[19]  I M Morison,et al.  The imprinted gene and parent-of-origin effect database , 2001, Nucleic Acids Res..

[20]  H Straatman,et al.  Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. , 2000, American journal of human genetics.

[21]  Steven A. Wall,et al.  Exclusive paternal origin of new mutations in Apert syndrome , 1996, Nature Genetics.