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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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Julia Sauerwald Tobias Jores Michal Eisenberg-Bord Silvia Gabriela Chuartzman Maya Schuldiner Doron Rapaport 《Molecular and cellular biology》2015,35(18):3200-3211
A special group of mitochondrial outer membrane (MOM) proteins spans the membrane several times via multiple helical segments. Such multispan proteins are synthesized on cytosolic ribosomes before their targeting to mitochondria and insertion into the MOM. Previous work recognized the import receptor Tom70 and the mitochondrial import (MIM) complex, both residents of the MOM, as required for optimal biogenesis of these proteins. However, their involvement is not sufficient to explain either the entire import pathway or its regulation. To identify additional factors that are involved in the biogenesis of MOM multispan proteins, we performed complementary high-throughput visual and growth screens in Saccharomyces cerevisiae. Cardiolipin (CL) synthase (Crd1) appeared as a candidate in both screens. Our results indeed demonstrate lower steady-state levels of the multispan proteins Ugo1, Scm4, and Om14 in mitochondria from crd1Δ cells. Importantly, MOM single-span proteins were not affected by this mutation. Furthermore, organelles lacking Crd1 had a lower in vitro capacity to import newly synthesized Ugo1 and Scm4 molecules. Crd1, which is located in the mitochondrial inner membrane, condenses phosphatidylglycerol together with CDP-diacylglycerol to obtain de novo synthesized CL molecules. Hence, our findings suggest that CL is an important component in the biogenesis of MOM multispan proteins. 相似文献
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Provisioning may act to cushion weaned young from dietary insufficiencyand errors during the period in which they are mastering complexforaging techniques or learning to identify appropriate dietaryitems. That is, young mammals who receive food from others maygain nutritional and/or informational benefits. I conducteda longitudinal study of 13 wild golden lion tamarins 1156weeks of age in six groups to evaluate hypotheses regardingthe functions of provisioning. All members belonging to thisprimate taxonomic family (the Callitrichidae) are cooperativebreeders and are known to provision their young more frequentlythan do other primate species, except humans. My results, togetherwith experimental findings, suggest that juveniles receive bothnutritional and informational benefits from being provisioned.My juvenile study subjects received animal prey (invertebratesand small vertebrates) from others more frequently than plantresources (fruits and hardened exudates). Apparently difficult-to-handlefruits were more likely to be transferred than readily processedfruits. These results support the nutritional benefits hypothesisbecause the young received items, particularly lipid- and protein-richprey, that they might not otherwise have acquired. That juvenilesfed independently on, and were provisioned with, the same fruitson the same day is counterevidence to the nutritional benefitshypothesis, however. The informational benefits hypothesis wassupported because juveniles received a large variety of foods(including more than 20% of fruit species eaten) and receiveduncommon fruits that were easily acquired. Adults emitted food-offeringcalls to encourage the transfer of prey to juveniles, particularlywhen the prey was whole and alive. 相似文献
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A Rapaport 《Comptes rendus des séances de la Société de biologie et de ses filiales》1975,169(3):536-540
By shortening to 5 seconds the burst of "fresh air" delivered by one level-pressing in 6 or 3 20 minutes sessions of operant conditioning at the ambient temperature of 35 +/- 1 degrees C brings 7 and 3 growing rats up to the maximal value of instrumental acquisition in 2 and 1 sessions. The experiment is going on with 40 minutes sessions in which the first 15 minutes belongs to the reward suppression. In spite of this inhibitory factor there is through the stimulus presence reconditioning which leads to instrumental adaptation at the ambient hyperthermia of 38.5 +/- 0.5 degrees C. At this temperature the instrumental activity level is the same as at 35 +/- 1 degrees C, in 20 minutes and the rectal temperature is rising up to provide compensatory work (+ 2.39 degrees C. instead of + 1.34 degrees C. at 35 +/- degrees C.). 相似文献
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Walter Rapaport 《The Western journal of medicine》1955,83(6):410-411
Neuropsychiatric disabilities are the number one problem in medicine. More specialists are needed in the field of neuropsychiatry. Better psychiatric orientation of nonpsychiatric physicians is needed and there must be infinitely more research into psychiatric problems. We need more adequately equipped and staffed hospitals, both private and public, to care for the problem, and an alerted public as well as a sympathetic, understanding medical profession. 相似文献
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