The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Number of CpG islands and genes in human and mouse.
Open accessAbstract
Estimation of gene number in mammals is difficult due to the high proportion of noncoding DNA within the nucleus. In this study, we provide a direct measurement of the number of genes in human and mouse. We have taken advantage of the fact that many mammalian genes are associated with CpG islands whose distinctive properties allow their physical separation from bulk DNA. Our results suggest that there are approximately 45,000 CpG islands per haploid genome in humans and 37,000 in the mouse. Sequence comparison confirms that about 20% of the human CpG islands are absent from the homologous mouse genes. Analysis of a selection of genes suggests that both human and mouse are losing CpG islands over evolutionary time due to de novo methylation in the germ line followed by CpG loss through mutation. This process appears to be more rapid in rodents. Combining the number of CpG islands with the proportion of island-associated genes, we estimate that the total number of genes per haploid genome is approximately 80,000 in both organisms.
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Citations
Cites
CpG islands as gene markers in the human genome
Larsen, F., Gundersen, G., Lopez, R., & Prydz, H. (1992) · Genomics · doi:10.1016/0888-7543(92)90024-m · Cited by 922
Variability at the Telomeres of the Human X/Y Pseudoautosomal Region
Cooke, H. J., & Smith, B. A. (1986) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.1986.051.01.026 · Cited by 233
Evolution of chromosome bands: molecular ecology of noncoding DNA
Holmquist, G. P. (1989) · Journal of Molecular Evolution · doi:10.1007/bf02602928 · Cited by 177
Cited by
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Initial sequencing and comparative analysis of the mouse genome
Mouse Genome Sequencing Consortium (2002) · Nature · doi:10.1038/nature01262 · Cited by 7,187
DNA methylation patterns and epigenetic memory
Bird, A. (2002) · Genes & Development · doi:10.1101/gad.947102 · Cited by 7,124
Self-citationDNA methylation landscapes: Provocative insights from epigenomics
Suzuki, M. M., & Bird, A. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2341 · Cited by 3,039
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Metadata
- Authors
- Antequera, F., & Bird, A.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1993-12-15
- Volume
- 90
- Issue
- 24
- Pages
- 11995-11999
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1999510229
- Cited by
- 996
- References
- 3
- FWCI
- 7.12
- Type
- journal article
- Language
- en
- Open access
- green
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