{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T15:34:40Z","timestamp":1764084880528,"version":"3.37.3"},"reference-count":70,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:00Z","timestamp":1698278400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 HG005039","U01 DE024434","R21 DE029916","R35 GM128625","R01DE028599","U01DE024427"],"award-info":[{"award-number":["R01 HG005039","U01 DE024434","R21 DE029916","R35 GM128625","R01DE028599","U01DE024427"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006235","name":"Lawrence Berkeley National Laboratory","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006235","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000015","name":"U.S. Department of Energy","doi-asserted-by":"publisher","award":["DE-AC02-05CH11231"],"award-info":[{"award-number":["DE-AC02-05CH11231"]}],"id":[{"id":"10.13039\/100000015","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005595","name":"University of California","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005595","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Craniosynostosis, defined by premature fusion of one or multiple cranial sutures, is a common congenital defect affecting more than 1\/2000 infants and results in restricted brain expansion. Single gene mutations account for 15%\u201320% of cases, largely as part of a syndrome, but the majority are nonsyndromic with complex underlying genetics. We hypothesized that the two noncoding genomic regions identified by a GWAS for craniosynostosis contain distal regulatory elements for the risk genes BMPER and BMP2. To identify such regulatory elements, we surveyed conserved noncoding sequences from both risk loci for enhancer activity in transgenic Danio rerio. We identified enhancers from both regions that direct expression to skeletal tissues, consistent with the endogenous expression of bmper and bmp2. For each locus, we also found a skeletal enhancer that also contains a sequence variant associated with craniosynostosis risk. We examined the activity of each enhancer during craniofacial development and found that the BMPER-associated enhancer is active in the restricted region of cartilage closely associated with frontal bone initiation. The same enhancer is active in mouse skeletal tissues, demonstrating evolutionarily conserved activity. Using enhanced yeast one-hybrid assays, we identified transcription factors that bind each enhancer and observed differential binding between alleles, implicating multiple signaling pathways. Our findings help unveil the genetic mechanism of the two craniosynostosis risk loci. More broadly, our combined in vivo approach is applicable to many complex genetic diseases to build a link between association studies and specific genetic mechanisms.<\/jats:p>","DOI":"10.1093\/hmg\/ddad182","type":"journal-article","created":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T17:40:00Z","timestamp":1698342000000},"page":"837-849","source":"Crossref","is-referenced-by-count":4,"title":["Identification of conserved skeletal enhancers associated with craniosynostosis risk genes"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1322-1972","authenticated-orcid":false,"given":"Xuan Anita","family":"He(\u4f55\u7487)","sequence":"first","affiliation":[{"name":"Department of Pharmacology , Physiology & Biophysics, , 700 Albany St, W607, Boston, MA 02118 ,","place":["United States"]},{"name":"Boston University , Physiology & Biophysics, , 700 Albany St, W607, Boston, MA 02118 ,","place":["United States"]},{"name":"Graduate Program in Biomolecular Medicine, Boston University , 72 East Concord St, Boston, MA 02118 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Berenson","sequence":"additional","affiliation":[{"name":"Department of Biology, Boston University , 5 Cummington Mall, Boston, MA 02215 ,","place":["United States"]},{"name":"Program in Molecular Biology , Cell Biology, and Biochemistry, , 5 Cummington Mall, Boston, MA 02215 ,","place":["United States"]},{"name":"Boston University , Cell Biology, and Biochemistry, , 5 Cummington Mall, Boston, MA 02215 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Bernard","sequence":"additional","affiliation":[{"name":"Department of Pharmacology , Physiology & Biophysics, , 700 Albany St, W607, Boston, MA 02118 ,","place":["United States"]},{"name":"Boston University , Physiology & Biophysics, , 700 Albany St, W607, Boston, MA 02118 ,","place":["United States"]},{"name":"College of Arts and Sciences, Boston University , 5 Cummington Mall, Boston, MA 02215 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Weber","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, University of Pennsylvania , 421 Curie Boulevard, Philadelphia, PA 19104-6058 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura E","family":"Cook","sequence":"additional","affiliation":[{"name":"Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory , 1 Cyclotron Road, Berkeley, CA 94720 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Axel","family":"Visel","sequence":"additional","affiliation":[{"name":"Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory , 1 Cyclotron Road, Berkeley, CA 94720 ,","place":["United States"]},{"name":"U.S. Department of Energy Joint Genome Institute , 1 Cyclotron Road, Berkeley, CA 94720 ,","place":["United States"]},{"name":"School of Natural Sciences , 5200 Lake Road, , Merced, CA 95343 ,","place":["United States"]},{"name":"University of California Merced , 5200 Lake Road, , Merced, CA 95343 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan I","family":"Fuxman Bass","sequence":"additional","affiliation":[{"name":"Department of Biology, Boston University , 5 Cummington Mall, Boston, MA 02215 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon","family":"Fisher","sequence":"additional","affiliation":[{"name":"Department of Pharmacology , Physiology & Biophysics, , 700 Albany St, W607, Boston, MA 02118 ,","place":["United States"]},{"name":"Boston University , Physiology & Biophysics, , 700 Albany St, W607, Boston, MA 02118 ,","place":["United 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