To further investigate the genetic mechanism of the mutant mice(B6-Co) with hereditary corneal opacity phenotype obtained by ENU-induced mutagenesis from B6 in previous study, SNP markers were used to map the mutant gene of B6-Co mice. F2 generation mice were bred by backcrossing (B6-CoPxD2 )F1 with D2 and the DNA samples of F2 mutant mice were extracted from the tails. Five SNP sites that showed differences between B6 and D2 strains nearby the located region on chromosome 13 were screened from MGI database. Five SNPs, PCR-RFLP and linkage analyses were carried out to map the mutant gene. The result showed that the mutant gene was located between 112 546 283~113 397 654 bp on chromosome 13. There are five identified genes including Map3k1 that is associated with eye morphogenesis and eyelid closure of mouse in this region. This suggests that Map3k1 is the most probable candidate mutant gene of B6-Co mice.
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http://dx.doi.org/10.3724/sp.j.1005.2010.00486 | DOI Listing |
Sci Rep
December 2024
Department of Frontier Medicine, Institute of Medical Science, Graduate School of Medicine, St. Marianna University, Kawasaki, 2168511, Japan.
The overexpression of Polo-like kinase 1 (PLK1) is associated with poor clinical outcomes in various malignancies, making it an attractive target for anticancer therapies. Although recent studies suggest PLK1's involvement in homologous recombination (HR), the impact of its overexpression on HR remains unclear. In this study, we investigated the effect of PLK1 overexpression on HR using bioinformatics and experimental approaches.
View Article and Find Full Text PDFSci Rep
December 2024
Division of Zoonosis Research, National Institute of Animal Health, National Agriculture and Food Research Organization, Tsukuba, Ibaraki, Japan.
Salmonella enterica serovar 4,[5],12:i:- sequence type 34 (ST34) has recently become a global concern for public and animal health. The acquisition of mobile genetic element ICEmST, which contains two copper tolerance gene clusters, cus and pco, influences the epidemic success of this clone. Copper is used as a feed additive in swine at levels that potentially lead to selection pressure for Enterobacteriaceae; however, it remains unclear whether the copper tolerance system of ICEmST functions in vivo.
View Article and Find Full Text PDFWorldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
View Article and Find Full Text PDFTrends Cancer
December 2024
Charité - Universitätsmedizin Berlin, Institute of Pathology, Berlin, Germany; German Cancer Consortium (DKTK), Partner Site Berlin, German Cancer Research Center (DKFZ), Heidelberg, Germany; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address:
In 1982, the RAS genes HRAS and KRAS were discovered as the first human cancer genes, with KRAS later identified as one of the most frequently mutated oncogenes. Yet, it took nearly 40 years to develop clinically effective inhibitors for RAS-mutant cancers. The discovery in 2013 by Shokat and colleagues of a druggable pocket in KRAS paved the way to FDA approval of the first covalently binding KRAS inhibitors, sotorasib and adagrasib, in 2021 and 2022, respectively.
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December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
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