scholarly journals Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis

2015 ◽  
Vol 308 (12) ◽  
pp. F1335-F1342 ◽  
Author(s):  
Muriel T. Davisson ◽  
Susan A. Cook ◽  
Ellen C. Akeson ◽  
Don Liu ◽  
Caleb Heffner ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
Kidney Development ◽  
Age Of Onset ◽  
Chromosome 12 ◽  
Recessive Mutation ◽  
New Mutation ◽  
Mammalian Kidney

Many genes, including odd-skipped related 1 ( Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.

scholarly journals A new mutation, gld, that produces lymphoproliferation and autoimmunity in C3H/HeJ mice.

1984 ◽  
Vol 159 (1) ◽  
pp. 1-20 ◽  
Author(s):  
J B Roths ◽  
E D Murphy ◽  
E M Eicher
Keyword(s):  
Lymph Node ◽  
Early Onset ◽  
Lymphoid Hyperplasia ◽  
Peripheral Blood Lymphocytes ◽  
Lymphoproliferative Disease ◽  
Chromosome 1 ◽  
Recessive Mutation ◽  
New Mutation ◽  
Antinuclear Autoantibodies ◽  
Lymph Node Enlargement

A newly discovered autosomal recessive mutation, generalized lymphoproliferative disease (gld), in the C3H/HeJ strain of mice, determines the development of early onset massive lymphoid hyperplasia with autoimmunity. Significant lymph node enlargement is apparent as early as 12 wk of age. By 20 wk, lymph nodes are 50-fold heavier than those of coisogenic C3H/HeJ-+/+ mice. There is a concomitant increase in the numbers of peripheral blood lymphocytes. Analysis of C3H-gld lymph node lymphocyte subsets by immunofluorescence indicates an increase in numbers of B cells, T cells, and null (Thy-1-, sIg-) lymphocytes by 6-, 15-, and 33-fold compared with congeneic control mice. Serologically, gld/gld mice develop antinuclear antibodies (including anti-dsDNA), thymocyte-binding autoantibody, and hypergammaglobulinemia with major increases in several immunoglobulin isotypes. Mutant gld mice live only one-half as long as normal controls (12 and 23 mo, respectively). Interstitial pneumonitis was found in virtually all C3H-gld mice autopsied when moribund. Although immune complexes were detected in the glomerulus by immunofluorescence techniques, only 14% of the autopsied mice had significant lupus-like nephritis. Vascular disease was not found. The pattern of early onset massive lymph node enlargement, hypergammaglobulinemia, and production of antinuclear autoantibodies resembles the basic abnormal phenotype induced by the lpr (lymphoproliferation) mutation. The mutations gld and lpr are not allelic. Linkage studies indicate that gld is located between Pep-3 and Lp on chromosome 1. This new mutation adds another genetically well-defined model to the list of murine lymphoproliferative/autoimmune disorders that may be exploited to gain a clearer understanding of immunoregulatory defects and for identifying common pathogenetic factors involved in systemic autoimmune diseases.

scholarly journals In Vivo Clonal Analysis Reveals Lineage-Restricted Progenitor Characteristics in Mammalian Kidney Development, Maintenance, and Regeneration

Cell Reports ◽  
2014 ◽  
Vol 7 (4) ◽  
pp. 1270-1283 ◽  
Author(s):  
Yuval Rinkevich ◽  
Daniel T. Montoro ◽  
Humberto Contreras-Trujillo ◽  
Orit Harari-Steinberg ◽  
Aaron M. Newman ◽  
...  
Keyword(s):  
Kidney Development ◽  
Clonal Analysis ◽  
Mammalian Kidney

scholarly journals Six2 Defines and Regulates a Multipotent Self-Renewing Nephron Progenitor Population throughout Mammalian Kidney Development

2008 ◽  
Vol 3 (2) ◽  
pp. 169-181 ◽  
Author(s):  
Akio Kobayashi ◽  
M. Todd Valerius ◽  
Joshua W. Mugford ◽  
Thomas J. Carroll ◽  
Michelle Self ◽  
...  
Keyword(s):  
Kidney Development ◽  
Mammalian Kidney ◽  
Nephron Progenitor

scholarly journals PAX2 Activates WNT4 Expression during Mammalian Kidney Development

2005 ◽  
Vol 281 (18) ◽  
pp. 12705-12712 ◽  
Author(s):  
Elena Torban ◽  
Alison Dziarmaga ◽  
Diana Iglesias ◽  
Lee Lee Chu ◽  
Tatiana Vassilieva ◽  
...  
Keyword(s):  
Kidney Development ◽  
Mammalian Kidney

scholarly journals A Point Mutation in the Bulge of the Iron-Responsive Element of the L Ferritin Gene in Two Families With the Hereditary Hyperferritinemia-Cataract Syndrome

Blood ◽  
1998 ◽  
Vol 91 (1) ◽  
pp. 319-323 ◽  
Author(s):  
M.E. Martin ◽  
S. Fargion ◽  
P. Brissot ◽  
B. Pellat ◽  
C. Beaumont
Keyword(s):  
Age Of Onset ◽  
Elevated Serum ◽  
New Mutation ◽  
Genetic Syndrome ◽  
High Affinity ◽  
Iron Responsive Element ◽  
Ferritin Gene ◽  
Responsive Element ◽  
Affinity Interaction

Abstract The molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome is the presence of a mutation in the iron-responsive element (IRE) of the L ferritin gene, located on chromosome 19q13.3-13.4. Two mutations have been reported so far, altering adjacent nucleotides in the IRE loop, in a region that has been extensively studied in vitro and shown to mediate high affinity interaction with the iron-responsive protein. In this report, we describe two families with a new mutation in the bulge of the IRE stem, and we show that this mutation alters the protein-binding affinity of the IRE in vitro to the same extent as the loop mutation. In addition, we present evidence that some variability in the age of onset of cataract can be associated with this genetic syndrome, probably because of additional genetic or environmental factors that modulate the penetrance of the L ferritin defect in the lens. We confirm that the patients do not have increased iron stores despite the persistence of elevated serum ferritin levels and that, accordingly, they do not tolerate well venesection therapy. Further studies will be necessary to elucidate the mechanism responsible for the onset of cataract.

scholarly journals microRNA-dependent temporal gene expression in the ureteric bud epithelium during mammalian kidney development

2014 ◽  
Vol 244 (3) ◽  
pp. 444-456 ◽  
Author(s):  
Vidya K. Nagalakshmi ◽  
Volkhard Lindner ◽  
Andy Wessels ◽  
Jing Yu
Keyword(s):  
Gene Expression ◽  
Kidney Development ◽  
Ureteric Bud ◽  
Mammalian Kidney ◽  
Temporal Gene Expression
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