Back

Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis

2020-03-30 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

Duplications of dosage sensitive sex-locus Xp21.2 including NR0B1 have been linked to 46,XY gonadal dysgenesis (GD) and their effects are attributed merely to increase gene dosage of NR0B1 (DAX1). Here we present a general mechanism how deletions, duplications, triplications or inversions with or without NR0B1 at Xp21.2 can lead to partial or complete GD by disrupting the cognate topological associated domain (TAD) in the vincinity of NR0B1. Our model is supported by three unrelated patients: tw...

Predicted journal destinations

1
The American Journal of Human Genetics
77 training papers
Top 1% 11.4%
2
Scientific Reports
701 training papers
Top 29% 7.5%
3
Nature Communications
483 training papers
Top 13% 7.5%
4
Genetics in Medicine
57 training papers
Top 2% 7.5%
5
Frontiers in Genetics
32 training papers
#1 5.7%
6
Nature Genetics
72 training papers
Top 3% 5.7%
7
Genome Medicine
56 training papers
Top 2% 4.9%
8
Human Genetics and Genomics Advances
39 training papers
Top 0.7% 4.0%
9
Journal of Medical Genetics
22 training papers
Top 0.3% 3.7%
10
European Journal of Human Genetics
25 training papers
Top 0.6% 3.7%
11
PLOS Genetics
39 training papers
Top 2% 2.7%
12
Human Molecular Genetics
28 training papers
Top 2% 1.9%
13
The Journal of Molecular Diagnostics
24 training papers
Top 0.4% 1.9%
14
Cell Genomics
34 training papers
Top 3% 1.9%
15
eLife
262 training papers
Top 23% 1.9%
16
iScience
74 training papers
Top 3% 1.9%
17
Journal of Clinical Investigation
50 training papers
Top 2% 1.5%
18
Genes
21 training papers
Top 1% 1.5%
19
npj Genomic Medicine
18 training papers
Top 1.0% 1.5%
20
International Journal of Molecular Sciences
39 training papers
Top 3% 1.3%
21
Frontiers in Oncology
34 training papers
Top 5% 1.3%
22
PLOS ONE
1737 training papers
Top 96% 1.3%
23
Nature
58 training papers
Top 4% 1.3%
24
Proceedings of the National Academy of Sciences
100 training papers
Top 14% 1.1%
25
Journal of Clinical Medicine
77 training papers
Top 19% 0.9%
26
Cancers
57 training papers
Top 7% 0.9%
27
Translational Psychiatry
94 training papers
Top 11% 0.7%
28
Communications Biology
36 training papers
Top 6% 0.7%
29
Brain
69 training papers
Top 11% 0.7%
30
Bioinformatics
24 training papers
Top 4% 0.7%