| 1. |
- Carpten, JD, et al.
(författare)
-
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
- 2002
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 32:4, s. 676-680
-
Tidskriftsartikel (refereegranskat)abstract
- We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors.
|
|
| 2. |
|
|
| 3. |
- Scherer, SW, et al.
(författare)
-
Human chromosome 7: DNA sequence and biology
- 2003
-
Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 300:5620, s. 767-772
-
Tidskriftsartikel (refereegranskat)abstract
- DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Lövkvist Wallström, E, et al.
(författare)
-
Importance of the 3' untranslated region of ornithine decarboxylase mRNA in the translational regulation of the enzyme
- 2001
-
Ingår i: The Biochemical journal. - : Portland Press Ltd.. - 0264-6021 .- 1470-8728. ; 356:2, s. 34-627
-
Tidskriftsartikel (refereegranskat)abstract
- Translational regulation of ornithine decarboxylase (ODC), which catalyses the first step in the biosynthesis of polyamines, appears to be an important mechanism in the strong feedback control as well as in the hypotonic induction of the enzyme. However, the exact mechanisms are not yet understood. The ODC mRNA has long 5' and 3' untranslated regions (UTRs) which may be involved in the translational control of the enzyme. In the present study we have used a series of stable transfectants of Chinese Hamster ovary cells expressing ODC mRNAs with various truncations in the 5' and 3' UTRs to investigate the importance of these regions. It is demonstrated that neither the 5' UTR nor the 3' UTR appears to be involved in the polyamine-mediated feedback control of ODC synthesis. The hypotonic induction of ODC, on the other hand, was shown to be highly dependent on the presence of the 3' UTR, but not on the 5' UTR, of ODC mRNA. Cells expressing ODC mRNAs lacking the 3' UTR showed no, or only a very slight, induction of ODC whether the 5' UTR was present or not, whereas the cell lines expressing ODC mRNAs containing the 3' UTR (with or without the 5' UTR) markedly induced ODC after a hypotonic shock. The present finding of a role for the ODC mRNA 3' UTR in the hypotonic induction of ODC is the first demonstration of a specific effect of the 3' UTR in the regulation of ODC.
|
|
| 8. |
- Sohler, D, et al.
(författare)
-
Neutron Excitations Across the N=50 Shell Gap in 102In
- 2002
-
Ingår i: Nuclear Physics, Section A. - : Elsevier. - 0375-9474 .- 1873-1554. ; 708:3-4, s. 181-189
-
Tidskriftsartikel (refereegranskat)abstract
- The structure of In-102 has been investigated by in-beam gamma-spectroscopic methods. Knowledge on the excited states of this nucleus has significantly been extended. Three cascades of transitions were observed to exceed the spin-energy domain spanned by the pig(9/2)(-1)v(d(5/2),g(7/2))(3) configurations. The new high spin states at similar to 4 MeV excitation energy could be assigned to the pig(9/2)(-1)v(d(5/2), g(7/2))(2)h (11/2) configuration, while at least those at 4.733, 5.192 and 5.853 MeV most likely arise from the vg(9/2) --> vd(5/2), g(7/2) one-particle-one-hole excitation across the N = 50 shell closure.
|
|
