ArticleThe Journal of clinical endocrinology and metabolism2012
ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.
Article in The Journal of clinical endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Androgen receptor ubiquitination links KCTD13 to genitourinary tract defects.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Tissue specific expression of sialic acid metabolic pathway: role in GNE myopathy.Journal of muscle research and cell motility · 2021Article
- Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review.Case reports in pediatrics · 2020Article
- 16p11.2 transcription factorProceedings of the National Academy of Sciences of the United States of America · 2018Article
- C2H2-Type Zinc Finger Proteins: Evolutionarily Old and New Partners of the Nuclear Hormone Receptors.Nuclear receptor signaling · 2018Review
- Genome-wide Regulatory Roles of the C2H2-type Zinc Finger Protein ZNF764 on the Glucocorticoid Receptor.Scientific reports · 2017Article
- CRTC2 Is a Coactivator of GR and Couples GR and CREB in the Regulation of Hepatic Gluconeogenesis.Molecular endocrinology (Baltimore, Md.) · 2016Article
- Glucocorticoid receptor coordinates transcription factor-dominated regulatory network in macrophages.BMC genomics · 2014Article
- CTCF As an Example of DNA-Binding Transcription Factors Containing Clusters of C2H2-Type Zinc Fingers.Acta naturaeArticle
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
contextNuclear hormone receptors exert their transcriptional effects through shared cofactor molecules; thus, defects in such intermediate proteins may be associated with multiple hormone resistance. Microdeletion of small chromosomal segments results in hereditary or sporadic diseases by affecting expression of residing genes.
objectivesWe describe a 7-yr-old boy with partial resistance to glucocorticoids, thyroid hormones, and possibly androgens. He was diagnosed as being in the autism spectrum disorder and had developmental delay and several facial morphological manifestations. We explored genes responsible for multiple hormone resistance of this case.
resultsWe found in this patient an approximately 1.1-Mb heterozygous 16p11.2 microdeletion, which included an approximately 500-kb unique deletion along with the common, previously reported approximately 600-kb 16p11.2 microdeletion. The small interfering RNA-based screening revealed that knockdown of ZNF764, which is located in the deleted segment unique to our case, significantly reduced glucocorticoid-, androgen-, and thyroid hormone-induced transcriptional activity of their responsive genes in HeLa cells, whereas its overexpression enhanced their transcriptional activity. The activities of the estrogen and progesterone receptors, cAMP response element-binding protein, and p53 were not affected in these cells. ZNF764 (zinc finger protein 764) expression was reduced in the patient's peripheral blood mononuclear cells, whereas exogenously supplemented ZNF764 recovered responsiveness to glucocorticoids in the patient's Epstein-Barr virus-transformed lymphocytes. The effect of ZNF764 on the glucocorticoid receptor transcriptional activity was mediated through cooperation with a general nuclear hormone receptor coactivator, transcriptional intermediary factor 1.
conclusionsZNF764 haploinsufficiency caused by microdeletion may be responsible for the partial multiple hormone resistance observed in our patient. ZNF764 appears to be involved in glucocorticoid, androgen, and thyroid hormone action.
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