Ask about this productRelated genes to: YY1AP1 antibody
- Gene:
- YY1AP1 NIH gene
- Name:
- YY1 associated protein 1
- Previous symbol:
- -
- Synonyms:
- YY1AP, HCCA2, YAP
- Chromosome:
- 1q22
- Locus Type:
- gene with protein product
- Date approved:
- 2005-02-09
- Date modifiied:
- 2015-09-03
Related products to: YY1AP1 antibody
Related articles to: YY1AP1 antibody
- Grange syndrome is a rare early-onset multisystem disorder characterized by multifocal steno-occlusive arterial disease, bone fragility, congenital cardiac anomalies, skeletal manifestations, and intellectual disability, caused by biallelic loss-of-function variants in YY1AP1. We report eight affected individuals (six females, two males) from a single consanguineous family. Molecular analysis included exome sequencing in three patients (P1, P5, and P7) and targeted next-generation sequencing in one patient (P8), with Sanger sequencing performed for segregation analysis and parental carrier testing. A novel biallelic YY1AP1 variant (NM_001198903.1: c.2531_2532del; p.E844Gfs*34) was identified in all affected individuals. One patient, a 4-month-old female, harbored an additional novel biallelic pathogenic variant in CLMP (NM_024769.5: c.167dup; p.N56Kfs*2), consistent with a dual molecular diagnosis. The most common presenting feature was multiple fractures, observed in six patients. The mean age at first fracture was 3.6 ± 1.7 years, and the mean baseline bone mineral density (BMD) Z-score was -4.1 ± 1.6. Three patients received intravenous bisphosphonate therapy for at least 2 years, resulting in improvement of mean BMD Z-scores from -4.9 ± 1.9 to -2.4 ± 0.7. This study represents the first Grange syndrome cohort reported from Türkiye and expands the clinical spectrum by demonstrating marked phenotypic variability, multisystem involvement, and potential benefit of bisphosphonate therapy in patients with significant bone fragility. - Source: PubMed
Publication date: 2026/04/17
Akalın AkçahanÖz VeyselPınarbaşı Ayşe SedaÖzalkak ŞervanKaraca Mehmet SalihYıldırım Ruken - Grange syndrome, caused by biallelic loss-of-function variants in YY1AP1, is characterized by multivascular stenoses, renovascular hypertension, brachydactyly, syndactyly, and mild cognitive impairment. Although RNF213 variants are typically associated with Moyamoya disease and systemic arterial stenosis, evidence suggests that pathogenic RNF213 variants may contribute to a broader vascular phenotype. We describe a 15-year-old girl with Moyamoya vasculopathy presenting with bilateral renal artery stenosis, brachydactyly, and intellectual disability. Her history included left-arm weakness and seizures at 10 months of age. She underwent surgical revascularization at 1.5 and 3 years of age for Moyamoya disease. Upon evaluation for hypertension, the patient was diagnosed with bilateral renal artery stenosis. Physical examination revealed dysmorphic features including deep-set eyes, up slanting palpebral fissures, a broad nasal bridge, low-set, posteriorly rotated ears, a broad left thumb, brachydactyly, and syndactyly of the toes. Whole-exome sequencing was negative; trio whole-genome sequencing identified a de novo, likely pathogenic RNF213 variant (c.12341C > G). This case expands the phenotypic spectrum associated with RNF213 variants, presenting a Grange-like phenotype. Our study highlights RNF213 as a candidate gene for such phenotypes. A negative YY1AP1 result does not exclude a Grange-like phenotype, emphasizing the need for comprehensive genetic testing and early vascular surveillance. - Source: PubMed
Publication date: 2026/04/05
Yilmaz Serife OzturkYigit AycaHatipoglu SevcanGursoy SemraGulcu AytacTurhan TuncerPekerbas MertSoylu AlperOzbek UgurBozkaya Ozlem Giray - Biallelic mutations in human GON4L have been linked to short stature, craniofacial abnormalities, and microcephaly, yet the underlying mechanisms remain unclear. GON4L is a nuclear protein composed of a YY1AP1-like region, two PAH domains, and one SANT domain, all implicated in transcriptional or chromatin regulation. Here, we define the function of Gon4la (a zebrafish ortholog of human GON4L) in post-embryonic growth and tissue homeostasis. We generated three gon4la mutant lines using CRISPR-Cas9, each predicted to express truncated proteins lacking the C-terminal PAH/SANT domains and differing in N-terminal YY1AP1-like region retention. All gon4la mutants displayed proportionate dwarfism with intestinal and pancreatic abnormalities, accompanied by expanded progenitor proliferation and impaired epithelial differentiation. Only mutants completely lacking the N-terminal YY1AP1-like region exhibited reduced igf1a expression, elevated growth hormone pathway activity, and increased mortality, consistent with endocrine dysregulation. Our findings demonstrate that distinct domains of Gon4la contribute differentially to systemic growth and metabolic organ homeostasis. Zebrafish gon4la mutants provide a tractable vertebrate model for dissecting mechanisms of GON4L-related developmental disorder, Li-Takada-Miyake syndrome (LTMS), and for functional testing of rare GON4L variants. - Source: PubMed
Publication date: 2026/04/04
Tsai Su-MeiHsu Chia-HaoChiang I-ChiehLiao Wei-NengChen Jen-KunJiang Yun-Jin - Grange syndrome is an ultra-rare autosomal recessive disorder caused by biallelic loss-of-function variants in the YY1AP1 gene. It is clinically characterized by multisystem involvement, including vascular stenosis, brachysyndactyly, osteopenia, cardiac anomalies, and neurodevelopmental delay. - Source: PubMed
Publication date: 2026/03/26
Unsel-Bolat GulTezcan NeslihanGenç-Akdağ DilanGerik-Celebi Hamide BetülTezcan AlperenBolat Hilmi - Osteoporosis is characterized by low bone mineral density (BMD) and elevated fracture risk. Most BMD-associated GWAS variants lie in noncoding regions, complicating efforts to identify causal genes and mechanisms. To overcome this variant-to-function challenge, we previously developed STING-seq, a framework integrating biobank-scale GWAS with single-cell CRISPR inhibition (CRISPRi) screening to directly connect noncoding -regulatory elements (CREs) to their target genes. Applied to human fetal osteoblast (hFOB) cells across osteogenic differentiation, STING-seq linked 76 CREs to 75 target genes at BMD loci. Arrayed CRISPRi and activation validated key CRE-gene relationships, including long-range enhancers regulating (over 500 kb apart). We further uncovered -regulatory networks and characterized the - bidirectional promoter, demonstrating a role for in mineralization via mitochondrial pathways. Together, these findings provide mechanistic insight into how noncoding GWAS variants shape osteoblast activity and highlight the genes and pathways that mediate genetic effects on BMD. - Source: PubMed
Publication date: 2026/02/16
Kahlani MohammadjavadMesner LarryMadhu VedavathiWagner LuciaKupkova KristynaPitas Hannah JMello Ana CGhatan SamuelLappalainen TuuliSanjana Neville EMorris John AFarber Charles R