{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T21:06:50Z","timestamp":1762981610317,"version":"3.41.2"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental & Craniofacial Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>TWIST1 is a basic helix-loop-helix (bHLH) transcription factor in humans that functions in mesoderm differentiation. TWIST1 primarily regulates genes as a transcriptional repressor often through TWIST-Box domain-mediated protein\u2013protein interactions. The TWIST-Box also can function as an activation domain requiring 3 conserved, equidistant amino acids (LXXXFXXXR). Autosomal dominant mutations in TWIST1, including 2 reported in these conserved amino acids (F187L and R191M), lead to craniofacial defects in Saethre\u2013Chotzen syndrome (SCS). Caenorhabditis elegans has a single TWIST1 homolog, HLH-8, that functions in the differentiation of the muscles responsible for egg laying and defecation. Null alleles in hlh-8 lead to severely egg-laying defective and constipated animals due to defects in the corresponding muscles. TWIST1 and HLH-8 share sequence identity in their bHLH regions; however, the domain responsible for the transcriptional activity of HLH-8 is unknown. Sequence alignment suggests that HLH-8 has a TWIST-Box LXXXFXXXR motif; however, its function also is unknown. CRISPR\/Cas9 genome editing was utilized to generate a domain deletion and several missense mutations, including those analogous to SCS patients, in the 3 conserved HLH-8 amino acids to investigate their functional role. The TWIST-Box alleles did not phenocopy hlh-8 null mutants. The strongest phenotype detected was a retentive (Ret) phenotype with late-stage embryos in the hermaphrodite uterus. Further, GFP reporters of HLH-8 downstream target genes (arg-1::gfp and egl-15::gfp) revealed tissue-specific, target-specific, and allele-specific defects. Overall, the TWIST-Box in HLH-8 is partially required for the protein's transcriptional activity, and the conserved amino acids contribute unequally to the domain's function.<\/jats:p>","DOI":"10.1093\/genetics\/iyad066","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T15:48:26Z","timestamp":1681746506000},"source":"Crossref","is-referenced-by-count":5,"title":["A Twist-Box domain of the <i>C. elegans<\/i> Twist homolog, HLH-8, plays a complex role in transcriptional regulation"],"prefix":"10.1093","volume":"224","author":[{"given":"Michael J","family":"Gruss","sequence":"first","affiliation":[{"name":"Department of Biology, The Catholic University of America , 620 Michigan Ave., NE, Washington, D.C. 20064 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen","family":"O\u2019Callaghan","sequence":"additional","affiliation":[{"name":"Department of Biology, The Catholic University of America , 620 Michigan Ave., NE, 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