{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:31Z","timestamp":1784557051654,"version":"3.55.0"},"reference-count":10,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,3,13]]},"abstract":"Summary<\/jats:title>\n \n Cholesterol transport into the mitochondria is required for synthesis of the first steroid, pregnenolone. Cholesterol is transported by the steroidogenic acute regulatory protein (STAR), which acts at the outer mitochondrial membrane prior to its import. Mutations in the STAR protein result in lipoid congenital adrenal hyperplasia (CAH). Although the STAR protein consists of seven exons, biochemical analysis in nonsteroidogenic COS-1 cells showed that the first two were not essential for pregnenolone synthesis. Here, we present a patient with ambiguous genitalia, salt-lossing crisis within two weeks after birth and low cortisol levels. Sequence analysis of the\n STAR<\/jats:italic>\n , including the exon\u2013intron boundaries, showed the complete deletion of exon 1 as well as more than 50 nucleotides upstream of STAR promoter. Mitochondrial protein import with the translated protein through synthesis cassette of the mutant STAR lacking exon 1 showed protein translation, but it is less likely to have synthesized without a promoter in our patient. Thus, a full-length\n STAR<\/jats:italic>\n gene is necessary for physiological mitochondrial cholesterol transport\n in vivo<\/jats:italic>\n .\n <\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n \n STAR<\/jats:italic>\n exon 1 deletion caused lipoid CAH.\n <\/jats:p>\n <\/jats:list-item>\n \n Exon 1 substitution does not affect biochemical activity.<\/jats:p>\n <\/jats:list-item>\n \n StAR promoter is responsible for gonadal development.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-16-0120","type":"journal-article","created":{"date-parts":[[2017,3,13]],"date-time":"2017-03-13T03:01:22Z","timestamp":1489374082000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development"],"prefix":"10.1530","volume":"2017","author":[{"given":"Anil","family":"Piya","sequence":"first","affiliation":[{"name":"1Laboratory of Biochemistry, Mercer University School of Medicine, Savannah, Georgia USA"},{"name":"2Division of Pediatric Endocrinology, Memorial University Medical Center, Savannah, Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmeet","family":"Kaur","sequence":"additional","affiliation":[{"name":"1Laboratory of Biochemistry, Mercer University School of Medicine, Savannah, Georgia USA"},{"name":"4Anderson Cancer Institute, Memorial University Medical Center, Savannah, Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan M","family":"Rice","sequence":"additional","affiliation":[{"name":"2Division of Pediatric Endocrinology, Memorial University Medical Center, Savannah, Georgia USA"},{"name":"3Augusta University School of Medicine, Augusta, Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himangshu S","family":"Bose","sequence":"additional","affiliation":[{"name":"1Laboratory of Biochemistry, Mercer University School of Medicine, Savannah, Georgia USA"},{"name":"4Anderson Cancer Institute, Memorial University Medical Center, Savannah, Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"key20170419121931505_bib1","first-page":"1","article-title":"Mechanistic sequence of mitochondrial cholesterol transport by StAR proteins","volume":"2","author":"Bose","year":"2011","journal-title":"Journal of Proteins and Proteomics"},{"key":"key20170419121931505_bib2","doi-asserted-by":"publisher","first-page":"e1602038","DOI":"10.1126\/sciadv.1602038","article-title":"Mitochondrial metabolic regulation by GRP78","volume":"3","author":"Prasad","year":"2017","journal-title":"Science 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