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To uncover the molecular systems underlying GH deficiency in IGHD2, we established IGHD2 model mice, which carry both wild-type and mutant copies of the human GH1 gene, replacing each of the endogenous mouse Gh loci. Our IGHD2 model mice exhibited growth retardation along with intact cellular architecture and mildly activated endoplasmic reticulum stress in the pituitary gland, caused by decreased GH-releasing hormone receptor (Ghrhr) and Gh gene promoter activities. Decreased Ghrhr and Gh promoter activities were likely caused by reduced levels of nuclear CREB3L2, which was demonstrated to stimulate Ghrhr and Gh promoter activity. To our knowledge, this is the first in vivo study to reveal a novel molecular mechanism of GH deficiency in IGHD2, representing a new paradigm that differs from widely accepted models.<\/jats:p>","DOI":"10.1210\/en.2019-00306","type":"journal-article","created":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T13:06:12Z","timestamp":1566479172000},"page":"2673-2691","source":"Crossref","is-referenced-by-count":5,"title":["Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models"],"prefix":"10.1210","volume":"160","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9261-6050","authenticated-orcid":false,"given":"Daisuke","family":"Ariyasu","sequence":"first","affiliation":[{"name":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"},{"name":"Graduate School of Medicine, Keio University, Tokyo, 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