FIGURE

Fig. 1

ID

ZDB-FIG-260406-28

Publication

Jacquinet et al., 2026 - Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies

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Fig. 1

Heterozygous variants in NR6A1 in individuals with renal agenesis/hypoplasia with/without uterine and skeletal anomalies. a Pedigree and localization of the truncating and missense variants along the NR6A1 protein (NM_033334.4). The genotype of relatives is mentioned as “?” if not tested. NR6A1 is depicted with its main functional domains and 3D structure. The DNA-binding domain (DBD in blue) include two zinc fingers (red rectangles). The 3D structure of the ligand binding domain (LBD in turquoise) is composed of twelve alpha-helices (H1-H12) and two beta-turns (B1-B2). b X-ray of the spinal column (Family 1; individuals II:1) showing 11 thoracic vertebrae (T), 10 ribs on the right and a 11th hypoplastic rib on the left (blue arrowhead), and a normal number of five lumbar vertebrae (L). The black arrow points to the interspace of the facet joint visible between the last thoracic vertebrae and the first lumbar vertebrae given its orientation. IAP = inferior articular process, P = pedicle, SP = spinous process. c Electrophoretic mobility shift assay with 32P-radiolabeled DR0 consensus sequence, showing lower complex formation for the mutated hsNR6A1 proteins compared to controls (red arrow). An additional band (black arrow) is detected in the four samples corresponding to non-specific interaction of DR0 probe with proteins of reticulocyte lysate. The yellow arrow points to the unbound labeled DR0 oligonucleotides. The negative control (CTRL-) corresponds to incubation of probe with reticulocyte lysate without any mRNA. WT NR6A1, R66C and M392R correspond to wildtype and mutant NR6A1 proteins synthesized in reticulocyte lysates. d Competition analyses and supershift assay. The red arrow points to the band formed by the DR0-NR6A1 complex, the black arrow points to non-specific protein-DNA complexes from the reticulocyte lysate, the yellow arrow points to the unbound labeled DR0 oligonucleotides, and the blue arrow points to the shifted complex in presence of anti–Myc antibody. Created in BioRender. Humaine,G.(2025)

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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