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| 34. |
- Hillier, Ladeana W, et al.
(författare)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Tidskriftsartikel (refereegranskat)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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| 37. |
- Silva-Tamayo, Juan Carlos, et al.
(författare)
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Global perturbation of the marine calcium cycle during the Permian-Triassic transition
- 2018
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Ingår i: Geological Society of America Bulletin. - 0016-7606. ; 130:7-8, s. 1323-1338
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Tidskriftsartikel (refereegranskat)abstract
- A negative shift in the calcium isotopiccomposition of marine carbonate rocksspanning the end-Permian extinction horizonin South China has been used to arguefor an ocean acidification event coincidentwith mass extinction. This interpretationhas proven controversial, both because theexcursion has not been demonstrated acrossmultiple, widely separated localities, and becausemodeling results of coupled carbon andcalcium isotope records illustrate that calciumcycle imbalances alone cannot accountfor the full magnitude of the isotope excursion.Here, we further test potential controlson the Permian-Triassic calcium isotoperecord by measuring calcium isotope ratiosfrom shallow-marine carbonate successionsspanning the Permian-Triassic boundary inTurkey, Italy, and Oman. All measured sectionsdisplay negative shifts in δ44/40Ca of upto 0.6‰. Consistency in the direction, magnitude,and timing of the calcium isotope excursionacross these widely separated localitiesimplies a primary and global δ44/40Ca signature.Based on the results of a coupled boxmodel of the geological carbon and calciumcycles, we interpret the excursion to reflect aseries of consequences arising from volcanicCO2 release, including a temporary decreasein seawater δ44/40Ca due to short-lived oceanacidification and a more protracted increasein calcium isotope fractionation associatedwith a shift toward more primary aragonitein the sediment and, potentially, subsequentlyelevated carbonate saturation statescaused by the persistence of elevated CO2delivery from volcanism. Locally, changingbalances between aragonite and calcite productionare sufficient to account for the calciumisotope excursions, but this effect alonedoes not explain the globally observed negativeexcursion in the δ13C values of carbonatesediments and organic matter as well. Onlya carbon release event and related geochemicalconsequences are consistent both withcalcium and carbon isotope data. The carbonrelease scenario can also account for oxygenisotope evidence for dramatic and protractedglobal warming as well as paleontologicalevidencefor the preferential extinction ofmarine animals most susceptible to acidification,warming, and anoxia.
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- Yang, Xin, et al.
(författare)
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Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
- 2020
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Ingår i: Journal of Clinical Oncology. - 0732-183X. ; 38:7, s. 674-685
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 × 10-76), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 × 10-3), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 × 10-3), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 3 1022). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 × 10-3). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical cancer risk management of PALB2 PV carriers.
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