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- Andersson, Leif
(författare)
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Studying Phenotypic Evolution in Domestic Animals: A Walk in the Footsteps of Charles Darwin
- 2009
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Ingår i: Cold Spring Harbor Symposia on Quantitative Biology. - : Cold Spring Harbor Laboratory. - 0091-7451 .- 1943-4456. ; 74, s. 319-325
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Konferensbidrag (refereegranskat)abstract
- Charles Darwin used domesticated plants and animals as proof of principle for his theory on phenotypic evolution by means of natural selection. Inspired by Darwin's work, we developed an intercross between the wild boar and domestic pigs to study the genetic basis for phenotypic changes during domestication. The difference in coat color is controlled by two major loci. Dominant white color is due to two consecutive mutations in the KIT gene: a 450-kb duplication and a splice mutation. Black spotting is caused by the combined effect of two mutations in MC1R: a missense mutation for dominant black color and a 2-bp insertion leading to a frameshift. A major discovery made using this pedigree is the identification of a single-nucleotide substitution in intron 3 of the gene for insulin-like growth factor 2 (IGF2) that is underlying a quantitative trait locus affecting muscle growth, size of the heart, and fat deposition. The mutation disrupts the interaction with a repressor and leads to threefold increased IGF2 expression in postnatal muscle. In a recent study, we have identified the IGF2 repressor, and this previously unknown protein, named ZBED6, is specific for placental mammals and derived from a domesticated DNA transposon.
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| 2. |
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| 3. |
- Göndör, Anita, et al.
(författare)
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Window into the Complexities of Chromosome Interactomes
- 2010
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Ingår i: Cold Spring Harbor Symposia on Quantitative Biology. - : Cold Spring Harbor Laboratory. - 0091-7451 .- 1943-4456. ; 75, s. 493-500
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Tidskriftsartikel (refereegranskat)abstract
- DNA is folded into increasingly complex yet highly mobile structures to organize the chromosomes. In the interphase nucleus, chromosomes or part of the chromosomes encounter one another preferentially at the boundaries between chromosomal territories. Although this situation implies that the preferred chromosomal neighborhood is a key determinant of interactions between chromosomes, what this means in functional terms is currently not well understood. Using the H19 imprinting control region as a window, it has been demonstrated that epigenetic information of the primary chromatin fiber has dual functions. Thus, epigenetic marks not only influence the proximity between chromatin fibers but also transfer epigenetic states between chromatin fibers both in cis and in trans. High-throughput sequence and DNA fluorescence it situ hybridization (FISH) analyses reveal that these features require chromatin movements that are restricted in space and time. The mechanisms involved in the establishment of chromosome interactomes may provide insight of fundamental importance into pivotal regulatory processes in the nucleus, such as the coordination of transcriptional programs and replication timing.
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| 4. |
- Kegel, A, et al.
(författare)
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The Smc5/6 complex: more than repair?
- 2010
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Ingår i: Cold Spring Harbor symposia on quantitative biology. - : Cold Spring Harbor Laboratory. - 1943-4456 .- 0091-7451. ; 75, s. 179-87
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Tidskriftsartikel (refereegranskat)
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| 7. |
- Mäkinen, Taija, et al.
(författare)
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Molecular mechanisms of lymphangiogenesis.
- 2002
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Ingår i: Cold Spring Harbor Symposia on Quantitative Biology. - 0091-7451 .- 1943-4456. ; 67
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Tidskriftsartikel (refereegranskat)
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| 10. |
- Rozengurt, E., et al.
(författare)
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Signal transduction in mitogenesis : further evidence for multiple pathways
- 1988
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Ingår i: Cold Spring Harbor Symposia on Quantitative Biology. - : Cold Spring Harbor Laboratory Press (CSHL). - 0091-7451 .- 1943-4456. ; 53, s. 945-954
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Tidskriftsartikel (refereegranskat)abstract
- This extract was created in the absence of an abstract.ExcerptGrowth factors are implicated in a wide variety of physiological and pathological processes, including embryogenesis, hematopoiesis, wound healing, immune responses, atherosclerosis, and neoplasis (Evered et al. 1985; Sporn and Roberts 1986). An important link between growth factors and their receptors and oncogene products has also been established (Heldin and Westermark 1984; Weinstein 1987). Thus, the elucidation of the mechanism of action of growth factors has emerged as one of the fundamental problems in biology and may prove crucial for understanding the unrestrained proliferation of cancer cells.Many studis of growth factors have used cultured fibroblasts, such as 3T3 cells, as a model system. These cells cease to proliferate when they deplete the medium of its growth-promoting activity. Such quiescent cells can be stimulated to reinitiate DNA synthesis and cell division either by replenishing the medium with fresh serum or by the addition of growth factors or pharmacological agents in serum-free...
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