The ploidy dependence of the induced frequency of a phenotype can be used to determine the dominant or recessive nature of a somatic mutation to a given trait. To demonstrate this we induced mutations in diploid and spontaneously occurring tetraploid clones of Syrian hamster embryo cells by treatment with EMS (1.2 mg/ml, 4 h). Mutagenized cells were assayed for the recessive mutation to 6-thioguanine resistance (5 micrograms/ml) and the dominant mutation to ouabain resistance (1.2 mM). The frequency of induction of the dominant mutation was equal in the diploid and tetraploid clones (2.3 x 10(-4)). The frequency of induction of the recessive mutation was greatly reduced in the tetraploid clone relative to the diploid clone (1.8 x 10(-4) vs. 1.2 x 10(-3)). 6TGr mutant subclones from the tetraploid clone remain nearly tetraploid, or even increase in ploidy, but show a reduction in the number of X chromosomes from two to one, or in some cases none (based on chromosome morphology). The principle of ploidy dependence is now being used to study the induction of phenotypes related to neoplastic transformation.
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http://dx.doi.org/10.1016/0027-5107(80)90162-1 | DOI Listing |
Mol Hum Reprod
March 2025
Institute for Advanced Biosciences, INSERM 1209, La Tronche, IAB, France.
Among rare cases of teratozoospermia, MMAF (multiple morphological abnormalities of the flagellum) syndrome is a complex genetic disorder involving at least 70 different genes. As the name suggests, patients with MMAF syndrome produce spermatozoa with multiple flagellar defects, rendering them immobile and non-fertilizing, leading to complete infertility in affected men. The only viable treatment option is ICSI.
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February 2025
Academic Center for Education, Culture, and Research (ACECR), West Azarbayjan Branch, P.O. Box: 165, Urmia, Iran.
Catharanthus roseus (L.) G. Don is a plant belonging to the Apocynaceae family, which is native to Madagascar.
View Article and Find Full Text PDFMar Biotechnol (NY)
February 2025
Key Laboratory of Mariculture, Ministry of Education, Ocean University of China, Qingdao, 266003, China.
The ploidy detection is crucial for the oyster industry. The objective of this study was to develop a method that verifies ploidy of the triploid Pacific oyster Crassostrea gigas by analyzing the diversity of triploid through microsatellite multiplex PCRs using fluorescent universal primers. We developed four information-rich multiplex PCR panels, comprising a total of 12 genomic microsatellites located in the genome of the C.
View Article and Find Full Text PDFbioRxiv
February 2025
Section of Molecular & Computational Biology, University of Southern California, 1050 Childs Way, RRI 108, Los Angeles CA 90089.
Whole genome duplication, or polyploidy, has been implicated in driving genome instability and tumorigenesis. Recent studies suggest that polyploidy in tumors promotes cancer genome evolution, progression, and chemoresistance resulting in worse prognosis of survival. The mechanisms by which whole genome duplications confer genome instability are not yet fully understood.
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January 2025
Basic Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Genome-wide hypertranscription is common in human cancer and predicts poor prognosis. To understand how hypertranscription might drive cancer, we applied our formalin-fixed paraffin-embedded (FFPE)-cleavage under targeted accessible chromatin method for mapping RNA polymerase II (RNAPII) genome-wide in FFPE sections. We demonstrate global RNAPII elevations in mouse gliomas and assorted human tumors in small clinical samples and discover regional elevations corresponding to de novo HER2 amplifications punctuated by likely selective sweeps.
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