| 1. |
- Braun, Attila, et al.
(författare)
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Genomic organization of profilin-III and evidence for a transcript expressed exclusively in testis.
- 2002
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Ingår i: Gene. - 1879-0038. ; 283:1-2, s. 219-225
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Tidskriftsartikel (refereegranskat)abstract
- Profilins are small, widely expressed actin binding proteins, thought to be key regulators of actin dynamics in living cells. So far, three profilin-genes have been described: profilin-I (PFN1), profilin-II (PFN2) with two splice variants and the recently identified profilin-III (PFN3). Here we describe the genomic organization of the genes encoding human and mouse profilin-III. Both are single exon genes and lie in close vicinity to the renal sodium-phosphate transport gene 2 (SLC34A1, NPT2) which is highly expressed in kidney. Northern hybridization to rat tissues has previously demonstrated expression of an approximately 4.5 kb long profilin-III mRNA transcript in kidney and a mRNA transcript of approximately 1 kb in length in testis. Here we show that mouse profilin-III expression is restricted to testis and that the 4.2 kb profilin-III mRNA in kidney is the result of a slc34a1 transcript which includes the antisense profilin-III open reading frame in its 3prime prime or minute-untranslated region. Finally, we demonstrate by in situ hybridization that profilin-III mRNA is localized to cells in the late stage of spermatogenesis.
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| 2. |
- Hemminki, Kari, et al.
(författare)
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Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients
- 2010
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 126:12, s. 2858-2862
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Tidskriftsartikel (refereegranskat)abstract
- To validate common low-risk variants predisposing for breast cancer (BC) in a large set of BRCA1/2 negative familial or genetically enriched cases from Germany, we genotyped 1,415 cases and 1,830 healthy women by MALDI-TOF in 105 candidate SNPs. Significantly higher ORs than previously reported for heterozygous unselected cases were found for the minor allele in FGFR2 (OR = 1.43, 95% Cl 1.30-1.59, p-value = 1.24 x 10(-12)) and for TNRC9 (OR = 1.33, 95% Cl 1.19-1.46, p-value = 1.54 x 10(-7)). Most intriguing, however, were the ORs for homozygous carriers from high-risk families for FGFR2 (OR = 2.05, 95% Cl 1.68-2.51, LSP1 (OR = 0.49, 95% Cl 0.28-0.86) and TNRC9 (OR = 1.62, 95% Cl 1.27-2.07). Moreover, the additional validation of 99 CGEMS-SNPs identified putative novel susceptibility alleles within the LSP1 gene (OR = 0.73, 95% Cl 0.61-0.87, p-value = 5.23 x 10(-4)). Finally, we provide evidence for the first time that a low-risk variant located at 6q22.33 (rs6569479) is associated with estrogen receptor negative BC in familial cases (OR = 1.33, 95% Cl 1.06-1.66; p-value = 0.012). Our data confirm the impact of the previously identified susceptibility loci and provide preliminary evidence for novel susceptibility loci in familial BC cases and correlate them to specific histopathological subtypes defined by estrogen receptor status.
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