Cancer Causative Mutations Occurring in Early Embryogenesis

2021 ◽  
pp. candisc.1110.2021
Author(s):  
Fresia Pareja ◽  
Ryan N Ptashkin ◽  
David N. Brown ◽  
Fatemeh Derakhshan ◽  
Pier Selenica ◽  
...  
Keyword(s):  
2014 ◽  
Vol 48 (4) ◽  
pp. 371-380
Author(s):  
Song Lizhen ◽  
Wang Yi ◽  
Yang Qinghua ◽  
Cheng Youfa
Keyword(s):  

Genetics ◽  
2001 ◽  
Vol 157 (3) ◽  
pp. 1227-1244 ◽  
Author(s):  
Steffi Kuhfittig ◽  
János Szabad ◽  
Gunnar Schotta ◽  
Jan Hoffmann ◽  
Endre Máthé ◽  
...  

Abstract The vast majority of the >100 modifier genes of position-effect variegation (PEV) in Drosophila have been identified genetically as haplo-insufficient loci. Here, we describe pitkinDominant (ptnD), a gain-of-function enhancer mutation of PEV. Its exceptionally strong enhancer effect is evident as elevated spreading of heterochromatin-induced gene silencing along euchromatic regions in variegating rearrangements. The ptnD mutation causes ectopic binding of the SU(VAR)3-9 heterochromatin protein at many euchromatic sites and, unlike other modifiers of PEV, it also affects stable position effects. Specifically, it induces silencing of white+ transgenes inserted at a wide variety of euchromatic sites. ptnD is associated with dominant female sterility. +/+ embryos produced by ptnD/+ females mated with wild-type males die at the end of embryogenesis, whereas the ptnD/+ sibling embryos arrest development at cleavage cycle 1-3, due to a combined effect of maternally provided mutant product and an early zygotic lethal effect of ptnD. This is the earliest zygotic effect of a mutation so far reported in Drosophila. Germ-line mosaics show that ptn+ function is required for normal development in the female germ line. These results, together with effects on PEV and white+ transgenes, are consistent with the hypothesis that the ptn gene plays an important role in chromatin regulation during development of the female germ line and in early embryogenesis.


2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Jianzhao Liu ◽  
Yuanxiang Zhu ◽  
Guan-Zheng Luo ◽  
Xinxia Wang ◽  
Yanan Yue ◽  
...  
Keyword(s):  

2010 ◽  
Vol 123 (19) ◽  
pp. 3244-3255 ◽  
Author(s):  
A. Vanden Bosch ◽  
T. Raemaekers ◽  
S. Denayer ◽  
S. Torrekens ◽  
N. Smets ◽  
...  

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sakina Rashid ◽  
Grace Kinabo ◽  
Marissa Kellogg ◽  
William P. Howlett ◽  
Marieke C. J. Dekker

Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida). We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery.


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