Great descrip. & visualization of the mosaic result of #Xist activity. Seeing X Chromosomes in a New Light http://nyti.ms/1alnZSX HT @jflier
http://www.nytimes.com/2014/01/21/science/seeing-x-chromosomes-in-a-new-light.html
The 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
QT:{{”
…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….
“}}
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.
Getting close and personal: Nice pop overview of #cancer genomics & finding new cancer drugs http://econ.trib.al/DevSlDS HT @ElementoLab
.@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
LETTER FROM SHENZHEN
THE GENE FACTORY
A Chinese firm’s bid to crack hunger, illness, evolution—and the genetics of human intelligence.
BY MICHAEL SPECTER
JANUARY 6, 2014
http://www.newyorker.com/reporting/2014/01/06/140106fa_fact_specter
.@andrewhessel Gene Factory: Interesting food for thought on #BGI’s cognitive #genomics research & $GNOM acquisition
http://www.newyorker.com/reporting/2014/01/06/140106fa_fact_specter
A paper on C. elegans that’s very informative:
http://www.nature.com/ng/journal/v44/n3/full/ng.1050.html
Chromosome-scale selective sweeps shape Caenorhabditis elegans genomic diversity
Most notable of their findings is evidence of recent selective sweeps on chromosomes I, IV, V and (sort of) X. These sweeps have the potential to fix pseudogenes that might have been present at the time.
Young Investigator for Ekta Khurana
http://www.genomeweb.com/genomeweb-feature-eighth-annual-young-investigators