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Sökning: WFRF:(Gabrielson M) > Naturvetenskap

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1.
  • Jiao, Xiang, et al. (författare)
  • PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1
  • 2017
  • Ingår i: Oncotarget. - : IMPACT JOURNALS LLC. - 1949-2553. ; 8:61, s. 102769-102782
  • Tidskriftsartikel (refereegranskat)abstract
    • Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD > 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
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2.
  • Peña, Viviana, et al. (författare)
  • Lithothamnion (Hapalidiales, Rhodophyta) in the changing Arctic and Subarctic : DNA sequencing of type and recent specimens provides a systematics foundation*
  • 2021
  • Ingår i: European journal of phycology. - : Taylor & Francis. - 0967-0262 .- 1469-4433. ; 56:4, s. 468-493
  • Tidskriftsartikel (refereegranskat)abstract
    • Coralline red algae in the non-geniculate genera Clathromorphum, Phymatolithon and Lithothamnion are important benthic ecosystem engineers in the photic zone of the Arctic and Subarctic. In these regions, the systematics and biogeography of Clathromorphum and Phymatolithon have mostly been resolved whereas Lithothamnion has not, until now. Seventy-three specific and infraspecific names were given to Arctic and Subarctic Lithothamnion specimens in the late 19th and early 20th century by Frans R. Kjellman and Mikael H. Foslie. DNA sequences from 36 type specimens, five historical specimens, and an extensive sampling of recent collections resulted in the recognition of four Arctic and Subarctic Lithothamnion species, L. glaciale, L. lemoineae, L. soriferum and L. tophiforme. Three genes were sequenced, two plastid-encoded, rbcL and psbA, and the mitochondrial encoded COI-5P; rbcL and COI-5P segregated L. glaciale from L. tophiforme but psbA did not. Partial rbcL sequences obtained from type collections enabled us to correctly apply the earliest available names and to correctly place the remainder in synonymy. We were unable to sequence another 22 type specimens, but all of these are more recent names than those that are now applied. It is difficult to identify these species solely on morpho-anatomy as they can all occur as encrusting corallines or as maerl (rhodoliths). We demonstrate the importance of sequencing historical type specimens by showing that the recently proposed North-east Atlantic L. erinaceum is a synonym of one of the earliest published Arctic species of Lithothamnion, L. soriferum, itself incorrectly placed in synonymy under L. tophiforme based on morpho-anatomy. Based on sequenced specimens, we update the distributions and ecology of these species.
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