{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:48:51Z","timestamp":1781110131174,"version":"3.54.1"},"reference-count":45,"publisher":"National Academy of Sciences","issue":"40","license":[{"start":{"date-parts":[[2021,3,21]],"date-time":"2021-03-21T00:00:00Z","timestamp":1616284800000},"content-version":"vor","delay-in-days":181,"URL":"https:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"funder":[{"name":"Collie Health Foundation","award":["none"],"award-info":[{"award-number":["none"]}]},{"name":"Clemson University Honors College","award":["none"],"award-info":[{"award-number":["none"]}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2020,10,6]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Through the study of a dental anomaly we identified a locus strongly associated with body size in the Shetland Sheepdog. Within this locus are variants in two genes: a substitution in\n                    <jats:italic>FtsJ RNA 2\u2032-O-Methyltransferase 3<\/jats:italic>\n                    (\n                    <jats:italic>FTSJ3<\/jats:italic>\n                    ) and a splice donor insertion in\n                    <jats:italic>Growth Hormone 1<\/jats:italic>\n                    (\n                    <jats:italic>GH1<\/jats:italic>\n                    ). We demonstrated that the\n                    <jats:italic>GH1<\/jats:italic>\n                    variant causes an abnormal splicing pattern that is also observed in dominant forms of human pituitary dwarfism. Interestingly, the\n                    <jats:italic>FTSJ3<\/jats:italic>\n                    variant is estimated to have the greatest impact on height and weight and this gene has not been previously characterized in body size traits. Both derived alleles are found in high frequencies in very small \u201ctoy\u201d breeds but are entirely absent from larger breeds.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2009500117","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T20:41:41Z","timestamp":1600720901000},"page":"24929-24935","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":6,"title":["Variants in\n                    <i>FtsJ RNA 2\u2032-O-Methyltransferase 3<\/i>\n                    and\n                    <i>Growth Hormone 1<\/i>\n                    are associated with small body size and a dental anomaly in dogs"],"prefix":"10.1073","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9958-1324","authenticated-orcid":false,"given":"Sydney R.","family":"Abrams","sequence":"first","affiliation":[{"name":"Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0480-7082","authenticated-orcid":false,"given":"Alexandra L.","family":"Hawks","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1272-0059","authenticated-orcid":false,"given":"Jacquelyn M.","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634;"},{"name":"Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3139-9849","authenticated-orcid":false,"given":"Thomas R.","family":"Famula","sequence":"additional","affiliation":[{"name":"Department of Animal Science, University of California, Davis, CA 95616;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5886-0156","authenticated-orcid":false,"given":"Mary","family":"Mahaffey","sequence":"additional","affiliation":[{"name":"Department of Veterinary Biosciences and Diagnostic Imaging, College of Veterinary Medicine, University of Georgia, Athens, GA 30602;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary S.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Mason","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigh Anne","family":"Clark","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2020,9,21]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1177\/089875640802500312"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/9781118816219"},{"key":"e_1_3_4_3_2","volume-title":"The Genetic Connection: A Guide to Health Problems in Purebred Dogs","author":"Ackerman L. J.","year":"2011","unstructured":"L. J. Ackerman, The Genetic Connection: A Guide to Health Problems in Purebred Dogs, (American Animal Hospital Association Press, 2011)."},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.2044-3862.2009.tb00330.x"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.157339.113"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.03.079"},{"key":"e_1_3_4_7_2","doi-asserted-by":"crossref","first-page":"e0138221","DOI":"10.1371\/journal.pone.0138221","article-title":"A novel AXIN2 missense mutation is associated with non-syndromic oligodontia","volume":"10","author":"Liu H.","year":"2015","unstructured":"H. Liu, T. Ding, Y. Zhan, H. Feng, A. Novel, A novel AXIN2 missense mutation is associated with non-syndromic oligodontia. PLoS One 10, e0138221 (2015).","journal-title":"PLoS One"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-383834-6.00087-2"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.021"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0303-7207(95)03633-I"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.2739\/kurumemedj.38.159"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-0233(98)80059-2"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0195-5616(03)00059-7"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1709082114"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0223094"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40575-019-0071-6"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008003"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1703"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1210\/endo.141.3.7380"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.114.20.3685"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40510-017-0164-2"},{"key":"e_1_3_4_22_2","first-page":"5849173","article-title":"Dental abnormalities in pituitary dwarfism: A case report and review of the literature","volume":"2017","author":"Ferrante F.","year":"2017","unstructured":"F. Ferrante, S. Blasi, R. Crippa, F. Angiero, Dental abnormalities in pituitary dwarfism: A case report and review of the literature. Case Rep. Dent. 2017, 5849173 (2017).","journal-title":"Case Rep. Dent."},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu313"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0061172"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3506"},{"key":"e_1_3_4_26_2","first-page":"567","volume-title":"Proceedings of the World Congress on Genetics Applied to Livestock Production","author":"Zhang C.","year":"2018","unstructured":"C. Zhang ., \u201cGWAS in production nucleus sows using a 650K SNP Chip to explore component traits underlying a repeatable low litter birth weight phenotype\u201d in Proceedings of the World Congress on Genetics Applied to Livestock Production, (2018), Vol. vol. 11, p. 567."},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.11.008"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3813"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(74)90153-6"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029174"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0841-4"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1530\/JME-20-0010"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1021\/pr201106n"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000451"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002849"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.2754\/avb200170010065"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1002\/bies.200800022"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-09373-w"},{"key":"e_1_3_4_40_2","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"e_1_3_4_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_3_4_42_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw222"},{"key":"e_1_3_4_43_2","unstructured":"R Core Team R: A Language and Environment for Statistical Computing (R Foundation for Statistical Computing Vienna 2017)."},{"key":"e_1_3_4_44_2","volume-title":"Extending the Linear Model with R: Generalized Linear, Mixed Effects, and Nonparametric Regression Models","author":"Faraway J. J.","year":"2006","unstructured":"J. J. Faraway, Extending the Linear Model with R: Generalized Linear, Mixed Effects, and Nonparametric Regression Models, (CRC Press, Boca Raton, FL, 2006)."},{"key":"e_1_3_4_45_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10460"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.2009500117","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2009500117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T06:01:24Z","timestamp":1649829684000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.2009500117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,21]]},"references-count":45,"journal-issue":{"issue":"40","published-print":{"date-parts":[[2020,10,6]]}},"alternative-id":["10.1073\/pnas.2009500117"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2009500117","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,21]]},"assertion":[{"value":"2020-09-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}