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• W2104409968 abstract "Parathyroid hormone-like hormone (PTHLH) is an important chondrogenic regulator; however, the gene has not been directly linked to human disease. We studied a family with autosomal-dominant Brachydactyly Type E (BDE) and identified a t(8;12)(q13;p11.2) translocation with breakpoints (BPs) upstream of PTHLH on chromosome 12p11.2 and a disrupted KCNB2 on 8q13. We sequenced the BPs and identified a highly conserved Activator protein 1 (AP-1) motif on 12p11.2, together with a C-ets-1 motif translocated from 8q13. AP-1 and C-ets-1 bound in vitro and in vivo at the derivative chromosome 8 breakpoint [der(8) BP], but were differently enriched between the wild-type and BP allele. We differentiated fibroblasts from BDE patients into chondrogenic cells and found that PTHLH and its targets, ADAMTS-7 and ADAMTS-12 were downregulated along with impaired chondrogenic differentiation. We next used human and murine chondrocytes and observed that the AP-1 motif stimulated, whereas der(8) BP or C-ets-1 decreased, PTHLH promoter activity. These results are the first to identify a cis-directed PTHLH downregulation as primary cause of human chondrodysplasia." @default.
• W2104409968 created "2016-06-24" @default.
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• W2104409968 date "2009-12-16" @default.
• W2104409968 modified "2023-10-12" @default.
• W2104409968 title "A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E" @default.
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• W2104409968 doi "https://doi.org/10.1093/hmg/ddp553" @default.
• W2104409968 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3031338" @default.
• W2104409968 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20015959" @default.
• W2104409968 hasPublicationYear "2009" @default.
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