A variant OSR1 allele which disturbs OSR1 mRNA expression in renal progenitor cells is associated with reduction of newborn kidney size and function

• Published in: Human molecular genetics Vol. 20; no. 21; pp. 4167 - 4174
• Main Authors: Zhang, Zhao, Iglesias, Diana, Eliopoulos, Nicoletta, El Kares, Reyhan, Chu, LeeLee, Romagnani, Paola, Goodyer, Paul
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.11.2011
• Subjects: Adult; Alleles; Animals; Animals, Newborn; Base Sequence; Biological and medical sciences; Cell Separation; Cord blood; cystatin C; Cystatin C - metabolism; Enhancers; Fetuses; Fundamental and applied biological sciences. Psychology; Gene expression; Gene Expression Regulation, Developmental; Genetics of eukaryotes. Biological and molecular evolution; Genotypes; Heterozygote; Humans; In Situ Hybridization; Infant, Newborn; Kidney; Kidney - enzymology; Kidney - growth & development; Kidney - pathology; Mesenchymal Stromal Cells - enzymology; Mesenchyme; Mice; Molecular and cellular biology; Molecular Sequence Data; Mutation - genetics; Neonates; Nephrons; Nucleic Acid Conformation; Organ Size; Pax2 protein; Protein-Serine-Threonine Kinases - genetics; Protein-Serine-Threonine Kinases - metabolism; Renal function; RNA, Messenger - chemistry; RNA, Messenger - genetics; RNA, Messenger - metabolism; Stem cells; Transcription; Transcription Factors - genetics; Transcription Factors - metabolism; Tumors; Umbilical Cord - metabolism; Ureter; Wilms Tumor - enzymology; Wilms Tumor - genetics; Wilms Tumor - pathology; Human; Renal function; Genetic variability; Stem cell; Genotype; Kidney; Variant; Allele; Newborn; Messenger RNA; Urinary system; Genetics; Progenitor cell

Human nephrons are formed during fetal life through an interaction between the branching ureteric bud and progenitor cells. The wide variation in final nephron number has been attributed to allelic variants of genes regulating ureteric bud arborization. Here, we hypothesize that dysfunctional varian...