The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Position effect in human genetic disease
Abstract
The spatially, temporally and quantitatively correct expression of a gene requires the presence not only of intact coding sequence, free of adverse nucleotide changes, but also correctly functioning regulatory control. With the identification of an increasing number of disease-related genes, the molecular defect in many cases has been defined. It is becoming clear that it is not always the transcription unit that bears the defect: there are a number of cases where the regulation of gene expression has been compromised. Cases associated with chromosomal rearrangement outside the transcription and promoter regions are categorized as position effects. A number of different mechanisms may explain their aetiology. Here, we examine the human disorders where such position effects are implicated. Further study of such cases may lead to important insights into mechanisms of gene regulation and transcriptional control.
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Citations
Cites
Heterochromatin Effects on the Frequency and Duration of LCR-Mediated Gene Transcription
Milot, E., Strouboulis, J., Trimborn, T., Wijgerde, M., de Boer, E., Langeveld, A., Tan-Un, K., Vergeer, W., Yannoutsos, N., Grosveld, F., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81327-6 · Cited by 314
β-Globin gene inactivation by DNA translocation in γβ-thalassaemi
Kioussis, D., Vanin, E., deLange, T., Flavell, R. A., & Grosveld, F. G. (1983) · Nature · doi:10.1038/306662a0 · Cited by 264
Cited by
Lettice, L. A. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg180 · Cited by 1,164
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Balemans, W. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.5.537 · Cited by 1,147
Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development
Woolfe, A., Goodson, M., Goode, D. K., Snell, P., McEwen, G. K., Vavouri, T., Smith, S. F., North, P., Callaway, H., Kelly, K., et al. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0030007 · Cited by 970
Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
Kleinjan, D. A., & van Heyningen, V. (2005) · The American Journal of Human Genetics · doi:10.1086/426833 · Cited by 873
Self-citationIdentification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
Balemans, W., Patel, N., Ebeling, M., Van Hul, E., Wuyts, W., Lacza, C., Dioszegi, M., Dikkers, F. G., Hildering, P., Willems, P. J., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.2.91 · Cited by 698
Metadata
- Authors
- Kleinjan, D.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1998-09-01
- Volume
- 7
- Issue
- 10
- Pages
- 1611-1618
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2134324352
- Cited by
- 370
- References
- 2
- FWCI
- 6.30
- Type
- journal article
- Language
- en
- Open access
- closed
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- Kleinjan, D. (1998). Position effect in human genetic disease. Human Molecular Genetics. https://doi.org/10.1093/hmg/7.10.1611
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