Context-dependent HOX transcription factor function in health and disease

Bondos, Sarah E.; Mendes, Gabriela Geraldo; Jons, A.

doi:10.1016/bs.pmbts.2020.05.003

Cited by 10 publications

(6 citation statements)

References 206 publications

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“…(63,64) Although HOX mutations in humans lead to early developmental lethality, HOX-related axial skeletal defects have been described, in addition to limb and craniofacial defects, arthritis, and diverse types of cancer. (65,66) Regionalization of the zebrafish axial skeleton is under the same mechanistic control, and relies on spatial (and temporal) collinearity; ie, the correspondence between the physical sequence of the genes on the chromosome and their anteroposterior boundaries (and timing) of expression (63,67) (Fig. 1A).…”

Section: Patterning Of the Zebrafish Axial And Fin Skeletonmentioning

confidence: 99%

Skeletal Biology and Disease Modeling in Zebrafish

Dietrich

Fiedler

Kurzyukova

et al. 2020

Journal of Bone and Mineral Research

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Zebrafish are teleosts (bony fish) that share with mammals a common ancestor belonging to the phylum Osteichthyes, from which their endoskeletal systems have been inherited. Indeed, teleosts and mammals have numerous genetically conserved features in terms of skeletal elements, ossification mechanisms, and bone matrix components in common. Yet differences related to bone morphology and function need to be considered when investigating zebrafish in skeletal research. In this review, we focus on zebrafish skeletal architecture with emphasis on the morphology of the vertebral column and associated anatomical structures. We provide an overview of the different ossification types and osseous cells in zebrafish and describe bone matrix composition at the microscopic tissue level with a focus on assessing mineralization. Processes of bone formation also strongly depend on loading in zebrafish, as we elaborate here. Furthermore, we illustrate the high regenerative capacity of zebrafish bones and present some of the technological advantages of using zebrafish as a model. We highlight zebrafish axial and fin skeleton patterning mechanisms, metabolic bone disease such as after immunosuppressive glucocorticoid treatment, as well as osteogenesis imperfecta (OI) and osteopetrosis research in zebrafish. We conclude with a view of why larval zebrafish xenografts are a powerful tool to study bone metastasis. © 2021 American Society for Bone and Mineral Research (ASBMR).

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Section: Patterning Of the Zebrafish Axial And Fin Skeletonmentioning

confidence: 99%

Skeletal Biology and Disease Modeling in Zebrafish

Dietrich

Fiedler

Kurzyukova

et al. 2020

Journal of Bone and Mineral Research

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“…E2F1 and HOXB9 are genes that play a role in the regulation of the cell cycle. E2F1 is a transcription factor that regulates heat shock protein 70 to control the G1/S checkpoint and assists with DNA repair, while HOXB9 regulates gene transcription through binding at a promoter region [ 6 , 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in numerous genes have been implicated in the development of various abnormalities in sperm development [ 4 , 5 ]. Based on prior animal studies, numerous genes have been identified that play a role in spermatogenesis; E2F1 and HOXB9 are thought to regulate the G1/S transition and gene transcription, respectively [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

Transcriptional Differences in Identical Twins with Different Reproductive Capacities: A Case Report

Campbell¹,

Dullea²,

Ramsoomair³

et al. 2023

Cureus

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Disorders of sperm production can be classified quantitatively as oligospermia (low sperm count) or azoospermia (no sperm during ejaculation). Numerous genes have been implicated in spermatogenesis. We describe a case of two identical twins who presented with different reproductive capabilities. One brother was infertile due to azoospermia, and the other, although oligospermic, previously naturally fathered a child. They were found to have differential gene expression based on RNA sequencing analysis. In the man with azoospermia, we found elevated E2F1 and HOXB9 gene expressions when compared with his brother, suggesting that the increased RNA expression of these genes could influence sperm production.

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“…La función de las proteínas se afecta cuando cambia la estructura de estas, lo que ocasiona distintas enfermedades neurodegenerativas como ataxias, enfermedades de Alzheimer o Parkinson e, incluso, el desarrollo de neoplasias. [1][2][3] La proteína de unión a la caja TATA humana (TBP) forma un complejo multiproteico que determina el sitio de unión de las ARN polimerasas al reconocer el promotor basal. En su estructura, el extremo C-terminal altamente conservado de TBP constituye el sitio de unión al ADN formado por 180 aminoácidos, con una similitud de 100 % con el ratón y 88 % con la mosca de la fruta.…”

Section: Antecedentesunclassified

<i>Drosophila</i> en el estudio de las interacciones proteicas de hTBP en el desarrollo y modelaje de SCA17

Montalvo-Méndez,

Cárdenas-Tueme,

Reséndez-Pérez

2024

GMM

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Antecedentes: Las interacciones proteicas participan en una gran cantidad de mecanismos moleculares que rigen los procesos celulares. La proteína de unión a la caja TATA humana (hTBP) interacciona con Antennapedia (Antp) a través de su extremo N-terminal, específicamente a través de sus homopéptidos de glutaminas. Esta región PolyQ sirve como sitio de unión a factores de transcripción en condiciones normales, pero cuando se expande genera la ataxia espinal cerebelosa 17 (SCA17), cuyos agregados proteicos en el cerebro impiden su funcionamiento correcto. Objetivo: Determinar si la región rica en glutaminas de hTBP interviene en su interacción con homeoproteínas y el papel que tiene en la formación de agregados proteicos en SCA17. Material y métodos: Se caracterizó la interacción de hTBP con otras homeoproteínas usando BiFC y se modeló SCA17 en Drosophila melanogaster dirigiendo hTBPQ80 al cerebro de las moscas usando UAS/GAL4. Resultados: Existió interacción de hTBP con homeoproteínas a través de su región rica en glutaminas. Los agregados proteicos de hTBP con las glutaminas expandidas afectaron la capacidad locomotriz de las moscas. Conclusiones: El estudio de las interacciones de hTBP abre la posibilidad para la búsqueda de nuevas estrategias terapéuticas en patologías neurodegenerativas como SCA17.

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Context-dependent HOX transcription factor function in health and disease

Cited by 10 publications

References 206 publications

Skeletal Biology and Disease Modeling in Zebrafish

Skeletal Biology and Disease Modeling in Zebrafish

Transcriptional Differences in Identical Twins with Different Reproductive Capacities: A Case Report

<i>Drosophila</i> en el estudio de las interacciones proteicas de hTBP en el desarrollo y modelaje de SCA17

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