Clinical journal of the American Society of Nephrology : CJASN
Authors: Molitoris BA, Okusa MD, Palevsky PM, Chawla LS, Kaufman JS, Devarajan P, Toto RM, Hsu CY, Greene TH, Faubel SG, Kellum JA, Wald R, Chertow GM, Levin A, Waikar SS, Murray PT, Parikh CR, Shaw AD, Go AS, Chinchilli VM, Liu KD, Cheung AK, Weisbord SD, Mehta RL, Stokes JB, Thompson AM, Thompson BT, Westenfelder CS, Tumlin JA, Warnock DG, Shah SV, Xie Y, Duggan EG, Kimmel PL, Star RA
Leukemia
Authors: Visco C, Li Y, Xu-Monette ZY, Miranda RN, Green TM, Li Y, Tzankov A, Wen W, Liu WM, Kahl BS, d'Amore ES, Montes-Moreno S, Dybkær K, Chiu A, Tam W, Orazi A, Zu Y, Bhagat G, Winter JN, Wang HY, O'Neill S, Dunphy CH, Hsi ED, Zhao XF, Go RS, Choi WW, Zhou F, Czader M, Tong J, Zhao X, van Krieken JH, Huang Q, Ai W, Etzell J, Ponzoni M, Ferreri AJ, Piris MA, Møller MB, Bueso-Ramos CE, Medeiros LJ, Wu L, Young KH
The Journal of clinical endocrinology and metabolism
Authors: Curtis JR, Ewing SK, Bauer DC, Cauley JA, Cawthon PM, Barrett-Connor E, Haney EM, Ishani A, Cremers S, Orwoll E
The New England journal of medicine
Authors: Steinman MA, Landefeld CS, Baron RB
Preventing chronic disease
Authors: Plantinga L, Rao MN, Schillinger D
Volume 142 of Issue 5 | Gastroenterology
Authors: Fennerty MB, McQuaid K
Volume 22 of Issue 6 | Genome research
Authors: Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N
Enhancers are essential gene regulatory elements whose alteration can lead to morphological differences between species, developmental abnormalities, and human disease. Current strategies to identify enhancers focus primarily on noncoding sequences and tend to exclude protein coding sequences. Here, we analyzed 25 available ChIP-seq data sets that identify enhancers in an unbiased manner (H3K4me1, H3K27ac, and EP300) for peaks that overlap exons. We find that, on average, 7% of all ChIP-seq peaks overlap coding exons (after excluding for peaks that overlap with first exons). By using mouse and zebrafish enhancer assays, we demonstrate that several of these exonic enhancer (eExons) candidates can function as enhancers of their neighboring genes and that the exonic sequence is necessary for enhancer activity. Using ChIP, 3C, and DNA FISH, we further show that one of these exonic limb enhancers, Dync1i1 exon 15, has active enhancer marks and physically interacts with Dlx5/6 promoter regions 900 kb away. In addition, its removal by chromosomal abnormalities in humans could cause split hand and foot malformation 1 (SHFM1), a disorder associated with DLX5/6. These results demonstrate that DNA sequences can have a dual function, operating as coding exons in one tissue and enhancers of nearby gene(s) in another tissue, suggesting that phenotypes resulting from coding mutations could be caused not only by protein alteration but also by disrupting the regulation of another gene.
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Medical mycology
Authors: Spellberg B, Kontoyiannis DP, Fredricks D, Morris MI, Perfect JR, Chin-Hong PV, Ibrahim AS, Brass EP
Cardiology research and practice
Authors: Agarwal S, Jacobs DR, Vaidya D, Sibley CT, Jorgensen NW, Rotter JI, Chen YD, Liu Y, Andrews JS, Kritchevsky S, Goodpaster B, Kanaya A, Newman AB, Simonsick EM, Herrington DM
Diabetes research and clinical practice
Authors: Klein OL, Jones M, Lee J, Collard HR, Smith LJ