FIGURE

Fig. 1

ID

ZDB-FIG-240621-51

Publication

Zeitz et al., 2024 - Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy

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Fig. 1

Families with autosomal recessive RCD and CRD/CD and pathogenic variants in UBAP1L. A. Pedigrees of the 4 families (F1362, F3377, F5326, and F7544) with variants in UBAP1L cosegregating with the phenotype in all available family members. The arrows indicate the genetic screening performed on each subject. DNA from the family members of family F3377, F5326, and F7544 were unavailable, but because of the reported consanguinity, we presumed that M2 and M3 occurred homozygous in the affected index cases. B. Homozygosity mapping using WGS data identified 3 large (>20 Mb) homozygous regions in the affected index individual CIC03225 of F1362 with sizes of 27.7, 20.9, and 25.8 Mb mapping to chromosome 1, 10, and 15, respectively. C. Super Enhancer (red), retinal cis-regulatory elements (light green), topologically associated domain (teal), chromatin accessibility (orange), histone modifications (green), and transcription factors residency (blue) for the UBAP1L locus. Chromatin accessibility has been defined by ATAC-seq from post-mortem adult human retina. Histone modifications and transcription factor residency have been defined by ChIP-seq from post-mortem adult human retina. Super enhancer and retinal cis-regulator elements have been calculated from previously described experimental data.21,22

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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