357 research outputs found
The Interiors of Giant Planets: Models and Outstanding Questions
We know that giant planets played a crucial role in the making of our Solar
System. The discovery of giant planets orbiting other stars is a formidable
opportunity to learn more about these objects, what is their composition, how
various processes influence their structure and evolution, and most importantly
how they form. Jupiter, Saturn, Uranus and Neptune can be studied in detail,
mostly from close spacecraft flybys. We can infer that they are all enriched in
heavy elements compared to the Sun, with the relative global enrichments
increasing with distance to the Sun. We can also infer that they possess dense
cores of varied masses. The intercomparison of presently caracterised
extrasolar giant planets show that they are also mainly made of hydrogen and
helium, but that they either have significantly different amounts of heavy
elements, or have had different orbital evolutions, or both. Hence, many
questions remain and are to be answered for significant progresses on the
origins of planets.Comment: 43 pages, 11 figures, 3 tables. To appear in Annual Review of Earth
and Planetary Sciences, vol 33, (2005
Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation
Polyalanine repeat expansion diseases are hypothesized to result from unequal chromosomal recombination, yet mechanistic studies are lacking. We identified two de novo cases of hand‐foot‐genital syndrome (HFGS) associated with polyalanine expansions in HOXA13 that afforded rare opportunities to investigate the mechanism. The first patient with HFGS was heterozygous for a de novo nine codon polyalanine expansion. Haplotype investigation showed that the expansion arose on the maternally inherited chromosome but not through unequal crossing over between homologs, leaving unequal sister chromatid exchange during mitosis or meiosis or slipped mispairing as possible explanations. The asymptomatic father of the second patient with HFGS was mosaic for a six codon polyalanine expansion. Multiple tissue PCR and clonal analysis of paternal fibroblasts showed only expansion/WT and WT/WT clones, and haplotype data showed that two unaffected offspring inherited the same paternal allele without the expansion, supporting a postzygotic origin. Absence of the contracted allele in the mosaic father does not support sister chromatid exchange in the origin of the expansion. Mosaicism for HOXA13 polyalanine expansions may be associated with a normal phenotype, making examination of parental DNA essential in apparently de novo HFGS cases to predict accurate recurrence risks. We could not find an example in the literature where unequal sister chromatid exchange has been proven for any polyalanine expansion, suggesting that the principal mechanism for polyalanine expansions (and contractions) is slipped mispairing without repair or that the true frequency of unequal sister chromatid exchange involving these repeats is low. © 2013 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/97454/1/ajmga35843.pd
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