English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

“Hairpatches” ( Hpt ) is a naturally occurring, autosomal semi-dominant mouse mutation.  Hpt / Hpt  homozygotes die in utero, while  Hpt /+ heterozygotes exhibit progressive renal failure accompanied by patchy alopecia. This mutation is a model for the rare human disorder “glomerulonephritis with sparse hair and telangiectases" (OMIM 137940). Fine mapping localized the  Hpt  locus to a 6.7 Mb region of Chromosome 4 containing 62 known genes. Quantitative real time PCR revealed differential expression for only one gene in the interval, T-cell acute lymphocytic leukemia 1 ( Tal1 ), which was highly upregulated in the kidney and skin of  Hpt /+ mice. Southern blot analysis of  Hpt  mutant DNA indicated a new EcoRI site in the  Tal1  gene. High throughput sequencing identified an endogenous retroviral class II intracisternal A particle insertion in  Tal1  intron 4. Our data suggests that the IAP insertion in  Tal1  underlies the histopathological changes in the kidney by three weeks of age, and that glomerulosclerosis is a consequence of an initial developmental defect, progressing in severity over time. The Hairpatches mouse model allows an investigation into the effects of  Tal1,  a transcription factor characterized by complex regulation patterns, and its effects on renal disease.

plos one

Retrotransposon Insertion in the T-cell Acute Lymphocytic Leukemia 1 (Tal1) Gene Is Associated with Severe Renal Disease and Patchy Alopecia in Hairpatches (Hpt) Mice