Genetics : Highlights
: Genetics Articles
News and Views: Conflicting evidence on the frequency of ESR1 amplification in breast cancerAn earlier report of high-frequency ESR1 amplification in breast cancer is now challenged by correspondence from four groups. This discussion of whether or not there is something 'FISHy' about ESR1 amplification highlights the difficulty of validating such observations, leaving the frequency and clinical significance of ESR1 amplification in breast cancer an open question. Nature Genetics, vol. 40 #7, pp821-822 |
News and Views: Bringing age-related macular degeneration into focusGenetic studies of age-related macular degeneration (AMD), the most prevalent blinding condition among the elderly, have had both great success and deep controversy. A new study now begins to resolve contradictory views over two candidate genes at a major AMD locus on chromosome 10q26 by suggesting a functional variant in one of these genes. Nature Genetics, vol. 40 #7, pp820-821 |
News and Views: A new identity for the elusive intestinal stem cellThe tremendous regenerative power of the intestinal epithelium has attracted considerable attention to the crypt as a model for adult stem cell biology. A new study now identifies the Polycomb group protein Bmi1 as a specific marker of intestinal stem cells in vivo. Nature Genetics, vol. 40 #7, pp818-819 |
News and Views: Lung stem cells in the balanceWnt ligands are secreted glycoproteins with critical roles in organogenesis, cancer initiation and progression, and maintenance of stem cell pluripotency. A new study strengthens considerably our understanding of the role of Wnt signaling in progenitor cells of the lung epithelium during development and injury. Nature Genetics, vol. 40 #7, pp822-823 |
News and Views: Shedding light on skin cancerPigmentation traits are known risk factors for skin cancer. Now, three new studies provide insights into the genetic factors underlying these effects, and the results reveal a surprisingly complex picture of the relationship between pigmentation traits and disease risk. Nature Genetics, vol. 40 #7, pp817-818 |
Letter: Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNABernhard Weber and colleagues identify a previously unknown insertion-deletion polymorphism in ARMS2 (LOC387715), a gene associated with age-related macular degeneration. The variant leads to rapid mRNA turnover of the ARMS2 transcript, suggesting a role for this gene in AMD. Nature Genetics, vol. 40 #7, pp892-896 |
Letter: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinomaGudbjartsson et al. report that variants near two genes, ASIP and TYR, are associated with risk of cutaneous melanoma and basal cell carcinoma. These loci are among several loci initially discovered for their role in human pigmentation, as reported by Sulem et al. In a separate study, Brown et al. independently discover an association between variants near ASIP and melanoma risk. Nature Genetics, vol. 40 #7, pp886-891 |
Letter: Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylationBen Tycko and colleagues report the identification of genotype-dependent allele-specific methylation at many loci through the use of genomic methylation-sensitive SNP array analysis. Using independent assays, they confirm allele-specific methylation at 16 SNP-tagged loci on various chromosomes. Nature Genetics, vol. 40 #7, pp904-908 |
Letter: Ras-MAPK signaling promotes trophectoderm formation from embryonic stem cells and mouse embryosGeorge Daley and colleagues show that ectopic Ras activation diverts embryonic stem cells towards trophoblastic fates, and conversely, that inhibition of MAPK signaling reduces trophectoderm outgrowth from embryo explants. These results implicate Ras-MAPK signaling in this early and critical cell fate decision. Nature Genetics, vol. 40 #7, pp921-926 |
Letter: Bmi1 is expressed in vivo in intestinal stem cellsEugenio Sangiorgi and Mario Capecchi use lineage tracing in mice to identify Bmi1 as a specific marker of a stem cell population located at the +4 position of the small intestinal crypt. Their findings address a long-standing debate in the field and support the existence of two distinct intestinal stem cell populations near the crypt base. Nature Genetics, vol. 40 #7, pp915-920 |
Letter: Mouse segmental duplication and copy number variationEvan Eichler and colleagues assess copy number variation of the C57BL/6J duplicated regions in 15 mouse strains used for genetic association studies. They report that mice show comparable copy number polymorphism when compared to humans, but that it is more locally restricted, specifically to regions containing gene families associated with spermatogenesis, pregnancy, viviparity, pheromone signaling and the immune response. Nature Genetics, vol. 40 #7, pp909-914 |
Letter: Combinatorial patterns of histone acetylations and methylations in the human genomeKeji Zhao and colleagues report genome-wide maps of 18 histone lysine acetylations in human CD4+ T cells as detected by ChIP-sequencing. Analysis of the data along with genome-wide maps of histone lysine methylations revealed a common module of 17 modifications associated with 25% of genes. Nature Genetics, vol. 40 #7, pp897-903 |
Letter: Strong association of de novo copy number mutations with sporadic schizophreniaMaria Karayiorgou and colleagues report that de novo mutations in DNA copy number are strongly associated with nonfamilial cases of schizophrenia. The authors observed no such enrichment among familial cases, suggesting that this type of mutation contributes primarily to sporadic forms of the disease. Nature Genetics, vol. 40 #7, pp880-885 |