Archive for the 'SciLit' Category
The draft genome of sweet orange (Citrus sinensis) – Nat Genet.
January 24, 2014The draft #genome of sweet orange: Nearly 30K genes in only ~370 Mb + #RNAseq to find key Vitamin C genes
http://www.nature.com/ng/journal/v45/n1/full/ng.2472.html
The authors present a draft genome of sweet orange (Citrus sinensis) which covers 87.3% of the relatively compact orange genome
(approximately 367 Mb). Self-alignment of the citrus genome sequences identified one ancient triplication event, which was shared with a number of diverse plants including Arabidopsis thaliana, and no recent whole genome duplication events partially explaining the compact size of its genome. A combination of short sequence repeat (SSR) and SNP markers revealed that sweet orange is an interspecific hybrid between pummelo and mandarin (1:3 in genome composition with female of pummelo origin). Characterization of the unique protein coding genes in the citrus genome and the transcriptome analysis (RNA-Seq and RNA-PET) derived from different tissues in the citrus plant were used to identify the specific genes that are involved in the accumulation of Vitamin C in its fruit (the rate limiting GalUR in the galacturonate pathway is present in 12 copies which are developmentally regulated). Overall, the genome has almost 30,000 genes.
The draft genome of sweet orange (Citrus sinensis).
Xu Q, Chen LL, …., Ruan Y.
Nat Genet. 2013 Jan;45(1):59-66.
PMID: 23179022
Somatic and germline CACNA1D calcium channel mutat… Nat Genet. 2013 – PubMed – NCBI
January 21, 2014QT:{{”
…Recurrent mutations in the potassium channel gene KCNJ5 that result in cell depolarization and Ca(2+) influx cause ∼40% of these tumors. We identified 5 somatic mutations (4 altering Gly403 and 1 altering Ile770) in CACNA1D, encoding a voltage-gated calcium channel, among 43 APAs without mutated KCNJ5…. We also identified de novo germline mutations at identical positions in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities….
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http://www.ncbi.nlm.nih.gov/pubmed/23913001
Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4.
Somatic and germline CACNA1D calcium channel mutations in
aldosterone-producing adenomas and primary aldosteronism.
Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P,Lifton RP.
Allele-specific expression at single cell resolution
January 19, 2014QT:{{”
We discovered abundant (12 to 24%) monoallelic expression of autosomal genes and that expression of the two alleles occurs independently. The monoallelic expression appeared random and dynamic because there was considerable variation among closely related embryonic cells. Similar patterns of monoallelic expression were observed in mature cells. Our allelic expression analysis also demonstrates the de novo inactivation of the paternal X chromosome.
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Women Are Better at Selecting Gifts than Men
January 19, 2014Neutral genomic regions refine models of recent rapid human population growth
January 19, 2014Neutral genomic regions refine models of recent rapid human population growth
Elodie Gazave, Li Ma, Diana Chang, Alex Coventry, Feng Gao, Donna Muzny, Eric Boerwinkle, Richard A. Gibbs, Charles F. Sing, Andrew G. Clark, and Alon Keinan
QT:{{”
Recent rapid growth of human populations predicts that a large number of genetic variants in populations today are very rare, i.e., appear in a small number of individuals. This effect is similar to that of purifying selection, which drives deleterious alleles to become rarer. “}}
evolutionary theory of cancer
January 18, 2014A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding : Nature Genetics : Nature Publishing Group
January 12, 2014.@drbachinsky Basically, SNP w. prostate #cancer risk + mechanistic insight …allele at 6q22 increases RFX6 expr…
http://go.nature.com/HEpOHG
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2862.html
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