Gene-targeted deletion in mice of the Ets −1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development

2018 ◽  
Vol 179 (1) ◽  
pp. 71-77
Author(s):  
Maoqing Ye ◽  
Lian Xu ◽  
Mengxia Fu ◽  
Dongrui Chen ◽  
Teresa Mattina ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Candidate Gene ◽  
Critical Region ◽  
Kidney Development ◽  
Targeted Deletion ◽  
Jacobsen Syndrome

scholarly journals Population genomics and haplotype analysis in spelt and bread wheat identifies a gene regulating glume color

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Michael Abrouk ◽  
Naveenkumar Athiyannan ◽  
Thomas Müller ◽  
Yveline Pailles ◽  
Christoph Stritt ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Candidate Gene ◽  
Population Genomics ◽  
Genotyping By Sequencing ◽  
Wheat Cultivars ◽  
Structural Variations ◽  
High Quality ◽  
Diversity Panel ◽  
Haplotype Variation ◽  
Single Region

AbstractThe cloning of agriculturally important genes is often complicated by haplotype variation across crop cultivars. Access to pan-genome information greatly facilitates the assessment of structural variations and rapid candidate gene identification. Here, we identified the red glume 1 (Rg-B1) gene using association genetics and haplotype analyses in ten reference grade wheat genomes. Glume color is an important trait to characterize wheat cultivars. Red glumes are frequent among Central European spelt, a dominant wheat subspecies in Europe before the 20th century. We used genotyping-by-sequencing to characterize a global diversity panel of 267 spelt accessions, which provided evidence for two independent introductions of spelt into Europe. A single region at the Rg-B1 locus on chromosome 1BS was associated with glume color in the diversity panel. Haplotype comparisons across ten high-quality wheat genomes revealed a MYB transcription factor as candidate gene. We found extensive haplotype variation across the ten cultivars, with a particular group of MYB alleles that was conserved in red glume wheat cultivars. Genetic mapping and transient infiltration experiments allowed us to validate this particular MYB transcription factor variants. Our study demonstrates the value of multiple high-quality genomes to rapidly resolve copy number and haplotype variations in regions controlling agriculturally important traits.

Cloning of the canine gene encoding transcription factor Pit-1 and its exclusion as candidate gene in a canine model of pituitary dwarfism

2000 ◽  
Vol 11 (1) ◽  
pp. 31-36 ◽  
Author(s):  
Irma S. Lantinga-van Leeuwen ◽  
Jan A. Mol ◽  
Hans S. Kooistra ◽  
Ad Rijnberk ◽  
Matthew Breen ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Candidate Gene ◽  
Canine Model ◽  
Gene Encoding ◽  
Pituitary Dwarfism

Genetic and Physical Mapping of theLpsLocus: Identification of the Toll-4 Receptor as a Candidate Gene in the Critical Region

1998 ◽  
Vol 24 (3) ◽  
pp. 340-355 ◽  
Author(s):  
Alexander Poltorak ◽  
Irina Smirnova ◽  
Xiaolong He ◽  
Mu-Ya Liu ◽  
Christophe Van Huffel ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Physical Mapping ◽  
Critical Region ◽  
Genetic And Physical Mapping

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders

2001 ◽  
Vol 248 (6) ◽  
pp. 496-499 ◽  
Author(s):  
V. Pingault ◽  
N. Bondurand ◽  
C. Le Caignec ◽  
S. Tardieu ◽  
N. Lemort ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Candidate Gene ◽  
Factor Evaluation ◽  
Myelin Disorders

scholarly journals Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans

2020 ◽  
Author(s):  
Verena Klämbt ◽  
Max Werth ◽  
Ana C Onuchic-Whitford ◽  
Maike Getwan ◽  
Thomas M Kitzler ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Transcriptional Activity ◽  
Kidney Development ◽  
Renal Tubules ◽  
Loss Of Function ◽  
Distal Nephron ◽  
Truncating Mutation ◽  
Whole Exome ◽  
Hypokalemic Alkalosis ◽  
Echogenic Kidneys

Abstract Background An underlying monogenic cause of early-onset chronic kidney disease (CKD) can be detected in ∼20% of individuals. For many etiologies of CKD manifesting before 25 years of age, >200 monogenic causative genes have been identified to date, leading to the elucidation of mechanisms of renal pathogenesis. Methods In 51 families with echogenic kidneys and CKD, we performed whole-exome sequencing to identify novel monogenic causes of CKD. Results We discovered a homozygous truncating mutation in the transcription factor gene transcription factor CP2-like 1 (TFCP2L1) in an Arabic patient of consanguineous descent. The patient developed CKD by the age of 2 months and had episodes of severe hypochloremic, hyponatremic and hypokalemic alkalosis, seizures, developmental delay and hypotonia together with cataracts. We found that TFCP2L1 was localized throughout kidney development particularly in the distal nephron. Interestingly, TFCP2L1 induced the growth and development of renal tubules from rat mesenchymal cells. Conversely, the deletion of TFCP2L1 in mice was previously shown to lead to reduced expression of renal cell markers including ion transporters and cell identity proteins expressed in different segments of the distal nephron. TFCP2L1 localized to the nucleus in HEK293T cells only upon coexpression with its paralog upstream-binding protein 1 (UBP1). A TFCP2L1 mutant complementary DNA (cDNA) clone that represented the patient’s mutation failed to form homo- and heterodimers with UBP1, an essential step for its transcriptional activity. Conclusion Here, we identified a loss-of-function TFCP2L1 mutation as a potential novel cause of CKD in childhood accompanied by a salt-losing tubulopathy.

Assignment of the Transcription Factor GATA4 Gene to Human Chromosome 8 and Mouse Chromosome 14: Gata4 Is a Candidate Gene for Ds (Disorganization)

Genomics ◽  
1995 ◽  
Vol 27 (1) ◽  
pp. 20-26 ◽  
Author(s):  
Robert A. White ◽  
Lisa L. Dowler ◽  
Linda M. Pasztor ◽  
Laura L. Gatson ◽  
Linda R. Adkison ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Human Chromosome ◽  
Candidate Gene ◽  
Mouse Chromosome ◽  
Chromosome 8 ◽  
Chromosome 14
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