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New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes,
but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in
40 cases (82%) the mutation arose on the paternally derived allele. We also evaluated 48 cases likely to have a somatic initial
mutation; in this group the initial mutation arose on paternal or maternal chromosomes with approximately equal frequency.
There was no statistically significant difference in the average age of fathers of children with new paternal germline mutations
from the average age of fathers of children with new maternal germline mutations or somatic initial mutations. Combining the
data with that from previous reports from other groups, the proportion of new germline mutations arising on a paternally derived
allele is 85% (based on 72 cases; 95% confidence interval = 76–93%). This number can be useful in the genetic counseling of
some families with retinoblastoma.
Received: 18 December 1996 / Accepted: 30 April 1997 相似文献
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Sebastian Kalamajski Dominique Bihan Arkadiusz Bonna Kristofer Rubin Richard W. Farndale 《The Journal of biological chemistry》2016,291(15):7951-7960
The hallmark of fibrotic disorders is a highly cross-linked and dense collagen matrix, a property driven by the oxidative action of lysyl oxidase. Other fibrosis-associated proteins also contribute to the final collagen matrix properties, one of which is fibromodulin. Its interactions with collagen affect collagen cross-linking, packing, and fibril diameter. We investigated the possibility that a specific relationship exists between fibromodulin and lysyl oxidase, potentially imparting a specific collagen matrix phenotype. We mapped the fibromodulin-collagen interaction sites using the collagen II and III Toolkit peptide libraries. Fibromodulin interacted with the peptides containing the known collagen cross-linking sites and the MMP-1 cleavage site in collagens I and II. Interestingly, the interaction sites are closely aligned within the quarter-staggered collagen fibril, suggesting a multivalent interaction between fibromodulin and several collagen helices. Furthermore, we detected an interaction between fibromodulin and lysyl oxidase (a major collagen cross-linking enzyme) and mapped the interaction site to 12 N-terminal amino acids on fibromodulin. This interaction also increases the activity of lysyl oxidase. Together, the data suggest a fibromodulin-modulated collagen cross-linking mechanism where fibromodulin binds to a specific part of the collagen domain and also forms a complex with lysyl oxidase, targeting the enzyme toward specific cross-linking sites. 相似文献
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Gecko phylogeography in the Western Indian Ocean region: the oldest clade of Ebenavia inunguis lives on the youngest island 下载免费PDF全文
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Schuster Martina Tewary Gargi Bao Xuanwen Subedi Prabal Hauck Stefanie M. Olsen Ann Karin Eide Dag Markus Trott Klaus Rüdiger Götz Sebastian Atkinson Michael J. Rosemann Michael 《Radiation and environmental biophysics》2021,60(4):689-689
Radiation and Environmental Biophysics - 相似文献
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Hartmut Heller Sebastian Brandt Klaus-Dieter Schuster 《Journal of applied physiology》2002,92(4):1770; author reply 1770-1770; author reply 1771