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Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1

ABSTRACT: Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1

PROVIDER: PRJNA759791 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR15698674_1.fastq.gz	Fastqsanger.gz
	SRR15698674_2.fastq.gz	Fastqsanger.gz
	SRR15698675_1.fastq.gz	Fastqsanger.gz
	SRR15698675_2.fastq.gz	Fastqsanger.gz
	SRR15698676_1.fastq.gz	Fastqsanger.gz

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Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1

Project description:Brachydactyly type A1 (BDA1), due to mutations in IHH, is characterized with shortened and/or missing middle phalangeal bones. These mutations alter the capacity and range of IHH signaling, reducing mesenchymal cells recruiting into the cartilage anlagen of a growing digit, result in a shorter middle phalange. However, reason for a missing middle phalange is unclear. Here, in IhhE95K BDA1 mouse, we showed a link to impaired apoptosis normally needed for interzone cavitation, thus a joint is not formed and the middle phalange is deemed absence. Hedgehog interacting partners (PTCH, CDON, GAS1and HHIP) are expressed in the interzone. Our data support a model for interzone cavitation, where CDON/GAS1 function as dependency receptors. Normally, IHH level is low at the center of the interzone, and the “ligand-free” CDON/GAS1 activate cell death for cavitation. In BDA1 joint, this is suppressed due to excess IHH. Our findings provided new insights into the role of IHH and CDON in joint formation, with relevance to hedgehog signaling in developmental biology.

2023-12-05 | GSE183253 | GEO

Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1.

Project description:Apoptosis occurs during development when a separation of tissues is needed. Synovial joint formation is initiated at the presumptive site (interzone) within a cartilage anlagen, with changes in cellular differentiation leading to cavitation and tissue separation. Apoptosis has been detected in phalangeal joints during development, but its role and regulation have not been defined. Here, we use a mouse model of brachydactyly type A1 (BDA1) with an IhhE95K mutation, to show that a missing middle phalangeal bone is due to the failure of the developing joint to cavitate, associated with reduced apoptosis, and a joint is not formed. We showed an intricate relationship between IHH and interacting partners, CDON and GAS1, in the interzone that regulates apoptosis. We propose a model in which CDON/GAS1 may act as dependence receptors in this context. Normally, the IHH level is low at the center of the interzone, enabling the "ligand-free" CDON/GAS1 to activate cell death for cavitation. In BDA1, a high concentration of IHH suppresses apoptosis. Our findings provided new insights into the role of IHH and CDON in joint formation, with relevance to hedgehog signaling in developmental biology and diseases.

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