DACH1

Last update 23 Jan 2025

Basic Info

Synonyms

DACH, DACH1, dachshund family transcription factor 1

+ [1]

Introduction

Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction with SMAD4 and NCOR1. Binds to chromatin DNA via its DACHbox-N domain (By similarity).

100 Clinical Results associated with DACH1

100 Translational Medicine associated with DACH1

0 Patents (Medical) associated with DACH1

370

Literatures (Medical) associated with DACH1

01 Feb 2025·Marine Biotechnology

Regulatory Genes in Eyespot Formation and Function of Mytilus coruscus

Article

Author: Qi, Pengzhi ; Ye, Yingying ; Li, Jiji ; Yan, Xiaojun ; Xu, Minhui ; Li, Hongfei

Light sensitivity is important for marine benthic invertebrates, and it plays a vital role in the marine bivalves settling. Animal visual systems are enormously diverse; their development appears to be controlled by a set of conserved retinal determination genes (RDGs). Eyespots, as the simplest animal eyes, their appearance indicates the important effect on mussel larvae attachment. Nevertheless, the molecular mechanism of the eyespot's development in Mytilus coruscus larvae is not clear. In this study, we identified 11 genes which play a regulatory role in the visual system (i.e. Pax1/9, Pax2/5/8, Pax6, Pax3/7, Six1/2, Six3/6, Six4/5, Dach, Eya, Brn and Tbx2) from transcriptome data and the whole genome sequence of M. coruscus. The results of chromosome localization showed that 11 genes were distributed on different chromosomes. Subcellular mapping revealed that all the proteins except Brn were located in the nucleus. Phylogeny and gene structure analyses revealed that the Pax members were divided into four subfamilies, the Six members were divided into three subfamilies and structures within the same subfamily were relatively conserved. Quantitative real-time PCR (qPCR) showed that Dach, Pax6, Pax3/7, Six1/2 and Six4/5 were expressed at high levels during the pediveliger stage. Moreover, Six1/2 and Six4/5 were highly expressed in mantle tissues. Subsequent overall in situ hybridization experiments in the planktonic larval stage revealed that Pax6, Six1/2 and Six4/5 detected signals in the region of the eyespot. Based on these analyses, we suggested that the development of vision in M. coruscus not only depended on the expression pattern of Pax6, but perhaps also related to Six1/2 and Six4/5 in the planktonic larval stage, while Six1/2 and Six4/5 were the dominant genes for visual function in the adult mussel. This study made a comprehensive analysis of the visual function of M. coruscus at the genome level, which helps us to understand the intrinsic mechanism of the visual system of marine bivalves, and also provides a molecular basis for improving the attachment and metamorphosis rate of M. coruscus larvae.

01 Feb 2025·European Journal of Medical Genetics

Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature

Article

Author: Docampo, Elisa ; Bailleux, Sophie ; Bulk, Saskia ; Bours, Vincent ; Chatelain, Camille ; Kukor, Léna

Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder caused by heterozygous mutations in the Sloan-Kettering Institute (SKI) gene. The clinical presentation is reminiscent of Marfan and Loeys-Dietz syndromes, making differential diagnosis challenging. Shprintzen-Goldberg syndrome's distinctive features are craniosynostosis and learning disabilities. The pathophysiology of these three conditions is similar as they all result in the deregulation of the transforming growth factor beta (TGF-β) signaling pathway and thus an altered expression of TGF-β responsive genes. We report a family of two patients: one with initial suspicion of hypermobile Ehlers-Danlos syndrome and the second with suspicion of Marfan syndrome, as the Marfan systemic score was positive and no craniosynostosis or learning disabilities were described. They were diagnosed with Shprintzen-Goldberg syndrome after a heterozygous probably pathogenic variant in the second mutational hotspot of SKI Dachshund homology domain was identified. We reviewed the genotype-phenotype correlation among the three mutational hotspots in SKI: the amino acids 20 to 35 of the receptor-regulated small mothers against decapentaplegic domain (group 1, n = 32), amino acids 94 to 117 of Dachshund homology domain (group 2, n = 12), and threonine 180 of Dachshund homology domain (group 3, n = 11 including our patients). As the main differential diagnoses of Shprintzen-Goldberg syndrome are Marfan and Loeys-Dietz syndromes, we completed the comparison already made by Loeys and Dietz. (2008) of Shprintzen-Goldberg syndrome clinical features among the different mutational hotspots with Marfan syndrome and the different types of Loeys-Dietz syndrome. In addition to the already described absence of learning disabilities in Shprintzen-Goldberg patients with a pathogenic variant in the threonine 180 of Dachshund homology domain, facial features also appeared to be less severe. The clinical overlap with Marfan and Loeys-Dietz patients requires genetic testing in order to establish an accurate molecular diagnosis at the variant level, and to adapt genetic counseling and clinical management.

01 Dec 2024·Nature Cell Biology

Specialized post-arterial capillaries facilitate adult bone remodelling

Article

Author: Red-Horse, Kristy ; Chagin, Andrei S. ; Dharmalingam, Backialakshmi ; Gurusamy, Malarvizhi ; Raftrey, Brian ; Bovay, Esther ; Stehling, Martin ; Sivaraj, Kishor K ; Rios Coronado, Pamela E. ; Mäkinen, Taija ; Jeong, Hyun-Woo ; Adams, Ralf H ; Bixel, M. Gabriele ; Bixel, M Gabriele ; Mohanakrishnan, Vishal ; Sävendahl, Lars ; Chagin, Andrei S ; Rios Coronado, Pamela E ; Sivaraj, Kishor K. ; Das, Soumyashree ; Paredes Ugarte, Isidora ; Chu, Nelson Tsz Long ; Dinh, Van Vuong ; Adams, Ralf H. ; Petkova, Milena ; Kuo, Yi-Tong

AbstractThe vasculature of the skeletal system is crucial for bone formation, homoeostasis and fracture repair, yet the diversity and specialization of bone-associated vessels remain poorly understood. Here we identify a specialized type of post-arterial capillary, termed type R, involved in bone remodelling. Type R capillaries emerge during adolescence around trabecular bone, possess a distinct morphology and molecular profile, and are associated with osteoprogenitors and bone-resorbing osteoclasts. Endothelial cell-specific overexpression of the transcription factor DACH1 in postnatal mice induces a strong increase in arteries and type R capillaries, leading to local metabolic changes and enabling trabecular bone formation in normally highly hypoxic areas of the diaphysis. Indicating potential clinical relevance of type R capillaries, these vessels respond to anti-osteoporosis treatments and emerge during ageing inside porous structures that are known to weaken compact bone. Our work outlines fundamental principles of vessel specialization in the developing, adult and ageing skeletal system.

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DACH1

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