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High resolution of human evolutionary trees with polymorphic microsatellites
TLDR
It is shown that polymorphic microsatellites (primarily CA repeats) allow trees of human individuals to be constructed that reflect their geographic origin with remarkable accuracy by the analysis of a large number of loci for each individual, in spite of the small variations in allele frequencies existing between populations.
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Pathogenesis and therapy of psoriasis
TLDR
The newest therapies for psoriasis target its immune components and may predict potential treatments for other inflammatory human diseases.
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Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
TLDR
Exome capture coupled with massively parallel sequencing is used to search for metastasis-related mutations in highly metastatic uveal melanomas of the eye and implicate loss of BAP1 in uveAL melanoma metastasis and suggest that the BAP 1 pathway may be a valuable therapeutic target.
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Identification of a RING protein that can interact in vivo with the BRCA1 gene product
TLDR
This BRCA1–associated RING domain (BARD1) protein contains an N–terminal RING motif, three tandem ankyrin repeats, and a C-terminal sequence with significant homology to the phylogenetically conserved BRCT domains that lie near the C terminus of BRCa1.
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The C-terminal (BRCT) Domains of BRCA1 Interact in Vivo with CtIP, a Protein Implicated in the CtBP Pathway of Transcriptional Repression*
TLDR
The results show that the BRCT domains interact in vivo with CtIP, a protein originally identified on the basis of its association with the CtBP transcriptional co-repressor, suggesting that BRCA1 regulates gene expression, at least in part, by modulating CtBP-mediated transcriptional repression.
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Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.
TLDR
A reconstruction of human differentiation based on 100 DNA polymorphisms tested in five populations from four continents shows that Europeans do not fit a simple model of independently evolving populations with equal evolutionary rates, and evolutionary models involving early admixture are compatible with the data.
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Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
TLDR
utations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis are described.
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JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.
TLDR
The results point to a critical role for JM2 in self tolerance and Th cell differentiation, and one point mutation at a splice junction site results in transcripts that encode a truncated protein lacking the fork head homology domain.
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Genomewide Scan Reveals Association of Psoriasis with IL-23 and NF-κB Pathways
TLDR
The results provide strong support for the association of at least seven genetic loci and psoriasis (each with combined P < 5 × 10−8) and suggest priority targets for study in other auto-immune disorders.
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Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
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