Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos
Westerich KJ, Reinecke S, Emich J, Wyrwoll MJ, Stallmeyer B, Meyer M, Oud MS, Fietz D, Pilatz A, Kliesch S, Reichman-Fried M, Tarbashevich K, Limon T, Stehling M, Friedrich C, Tüttelmann F, Raz E, 20.02.2023
Westerich KJ, Reinecke S, Emich J, Wyrwoll MJ, Stallmeyer B, Meyer M, Oud MS, Fietz D, Pilatz A, Kliesch S, Reichman-Fried M, Tarbashevich K, Limon T, Stehling M, Friedrich C, Tüttelmann F, Raz E. Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos. Hum Reprod. 2023 Apr 3;38(4):655-670. doi: 10.1093/humrep/dead031. PMID: 36807972.
Publication: https://doi.org/10.1093/humrep/dead031
Disclaimer
The publication Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos by Westerich KJ, Reinecke S, Emich J, Wyrwoll MJ, Stallmeyer B, Meyer M, Oud MS, Fietz D, Pilatz A, Kliesch S, Reichman-Fried M, Tarbashevich K, Limon T, Stehling M, Friedrich C, Tüttelmann F, Raz E is not published under an open access license.
Therefore, only content curated by the MFGA team can be shown.
For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information,
conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1: Male Reproductive Genomics cohort
Exome: Whole Exome Sequencing
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0001363: testis |
|
A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity. |
Human |
1114 |
Data set 2: The spectrum of rare DND1 variants in
Exome: Whole Exome Sequencing
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0001363: testis |
|
A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity. |
Human |
|
Data set 3: Zebrafish germ cells expressing orthologues of patient-mirrored DND1 protein variants are less
Proteome: Microarray
Data set 4: The DNDS212P variant protein is expressed at a reduced level in the germline
Proteome: Immunohistochemistry
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0000379: embryo |
|
An animal in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems |
Zebrafish |
|
Data set 5: Germ cells expressing the DND variant exhibit defects in fate maintenance
Transcriptome: Bulk RNA-Sequencing
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0000670: primordial germ cell |
|
A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells. |
Zebrafish |
|
|
Data set 6: Germ cells expressing the DND variant exhibit defects in cell migration
Other: Other
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0000379: embryo |
|
An animal in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems |
Zebrafish |
|
