ArticleAmerican journal of human genetics2020
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 58 citations in OpenAlex.
- A Case of SREBF1-Associated Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome With Recurrent Alopecia.The Journal of dermatology · 2026Article
- Dendrobium officinale polysaccharide ameliorate hyperlipidemia through LKB1/AMPK and CD36/PGC-1α/UCP1 activation and gut microbiota modulation.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.Human genome variation · 2026Article
- A synthetic angiotensin II/ACE2-based hormone shunt controlling experimental hypertension.Nature communications · 2026Article
- Dysregulation of the AMPK-SREBP1-FASN axis in MASLD: driving a vicious cycle of lipotoxicity and metabolic-immune crosstalk.Lipids in health and disease · 2026Review
- Lipid metabolism dysregulation in solar lentigo: a multi-system-level analysis reveals membrane instability and energy homeostasis disruption.Frontiers in cell and developmental biology · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Abnormal meibum is associated with SREBF1 mutation and IFAP Syndrome-2.Experimental eye research · 2026Article
- Case Report: Marked intrafamilial variability and recurrent fever-associated alopecia inFrontiers in medicine · 2026Article
- Abnormal Meibum Is Associated WithmedRxiv : the preprint server for health sciences · 2025Article
- MARCH8 suppresses hepatocellular carcinoma by promoting SREBP1 degradation and modulating fatty acid de novo synthesis.Cell death & disease · 2025Article
- Xiaozhi Yufa decoction ameliorates androgenetic alopecia through inhibition of MAPK signaling and regulation of lipid metabolism.Frontiers in pharmacology · 2025Article
- A novel loss-of-function variant inFrontiers in cellular and infection microbiology · 2025Article
- Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.Molecular vision · 2025Article
- A Transcriptome Approach Evaluating the Effects of Atractylenolide I on the Secretion of Estradiol and Progesterone in Feline Ovarian Granulosa Cells.Veterinary sciences · 2024Article
- Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Research progress in the correlation between SREBP/PCSK9 pathway and lipid metabolism disorders induced by antipsychotics.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Review
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Microarray analysis identifies coding and non-coding RNA markers of liver injury in whole body irradiated mice.Scientific reports · 2023Article
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.Clinical, cosmetic and investigational dermatology · 2023Article
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Authors and funding
34 authors at 17 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report describes the identification via whole-exome sequencing of three heterozygous mutations in SREBF1 in 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. SREBF1 encodes sterol regulatory element-binding protein 1 (SREBP1), which promotes the transcription of lipogenes involved in the biosynthesis of fatty acids and cholesterols. This process requires cleavage of SREBP1 by site-1-protease (S1P) and S2P and subsequent translocation into the nucleus where it binds to sterol regulatory elements (SRE). The three detected SREBF1 mutations caused substitution or deletion of residues 527, 528, and 530, which are crucial for S1P cleavage. In vitro investigation of SREBP1 variants demonstrated impaired S1P cleavage, which prohibited nuclear translocation of the transcriptionally active form of SREBP1. As a result, SREBP1 variants exhibited significantly lower transcriptional activity compared to the wild-type, as demonstrated via luciferase reporter assay. RNA sequencing of the scalp skin from IFAP-affected individuals revealed a dramatic reduction in transcript levels of low-density lipoprotein receptor (LDLR) and of keratin genes known to be expressed in the outer root sheath of hair follicles. An increased rate of in situ keratinocyte apoptosis, which might contribute to skin hyperkeratosis and hypotrichosis, was also detected in scalp samples from affected individuals. Together with previous research, the present findings suggest that SREBP signaling plays an essential role in epidermal differentiation, skin barrier formation, hair growth, and eye function.
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