scholarly journals Molecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles.

1990 ◽  
Vol 10 (2) ◽  
pp. 501-509 ◽  
Author(s):  
M C Strobel ◽  
P K Seperack ◽  
N G Copeland ◽  
N A Jenkins

The dilute (d) coat color locus of mouse chromosome 9 has been identified by more than 200 spontaneous and mutagen-induced recessive mutations. With the advent of molecular probes for this locus, the molecular lesion associated with different dilute alleles can be recognized and precisely defined. In this study, two dilute mutations, dilute-lethal20J (dl20J) and dilute prenatal lethal Aa2, have been examined. Using a dilute locus genomic probe in Southern blot analysis, we detected unique restriction fragments in dl20J and Aa2 DNA. Subsequent analysis of these fragments showed that they represented deletion breakpoint fusion fragments. DNA sequence analysis of each mutation-associated deletion breakpoint fusion fragment suggests that both genomic deletions were generated by nonhomologous recombination events. The spontaneous dl20J mutation is caused by an interstitial deletion that removes a single coding exon of the dilute gene. The correlation between this discrete deletion and the expression of all dilute-associated phenotypes in dl20J homozygotes defines the dl20J mutation as a functional null allele of the dilute gene. The radiation-induced Aa2 allele is a multilocus deletion that, by complementation analysis, affects both the dilute locus and the proximal prenatal lethal-3 (pl-3) functional unit. Molecular analysis of the Aa2 deletion breakpoint fusion fragment has provided access to a previously undefined gene proximal to d. Initial characterization of this new gene suggests that it may represent the genetically defined pl-3 functional unit.

1990 ◽  
Vol 10 (2) ◽  
pp. 501-509
Author(s):  
M C Strobel ◽  
P K Seperack ◽  
N G Copeland ◽  
N A Jenkins

The dilute (d) coat color locus of mouse chromosome 9 has been identified by more than 200 spontaneous and mutagen-induced recessive mutations. With the advent of molecular probes for this locus, the molecular lesion associated with different dilute alleles can be recognized and precisely defined. In this study, two dilute mutations, dilute-lethal20J (dl20J) and dilute prenatal lethal Aa2, have been examined. Using a dilute locus genomic probe in Southern blot analysis, we detected unique restriction fragments in dl20J and Aa2 DNA. Subsequent analysis of these fragments showed that they represented deletion breakpoint fusion fragments. DNA sequence analysis of each mutation-associated deletion breakpoint fusion fragment suggests that both genomic deletions were generated by nonhomologous recombination events. The spontaneous dl20J mutation is caused by an interstitial deletion that removes a single coding exon of the dilute gene. The correlation between this discrete deletion and the expression of all dilute-associated phenotypes in dl20J homozygotes defines the dl20J mutation as a functional null allele of the dilute gene. The radiation-induced Aa2 allele is a multilocus deletion that, by complementation analysis, affects both the dilute locus and the proximal prenatal lethal-3 (pl-3) functional unit. Molecular analysis of the Aa2 deletion breakpoint fusion fragment has provided access to a previously undefined gene proximal to d. Initial characterization of this new gene suggests that it may represent the genetically defined pl-3 functional unit.


Genetics ◽  
1986 ◽  
Vol 112 (2) ◽  
pp. 321-342
Author(s):  
Eugene M Rinchik ◽  
Liane B Russell ◽  
Neal G Copeland ◽  
Nancy A Jenkins

ABSTRACT Genes of the dilute-short ear (d-se) region of mouse chromosome 9 comprise an array of loci important to the normal development of the animal. Over 200 spontaneous, chemically induced and radiation-induced mutations at these loci have been identified, making it one of the most genetically well-characterized regions of the mouse. Molecular analysis of this region has recently become feasible by the identification of a dilute mutation that was induced by integration of an ecotropic murine leukemia virus genome. Several unique sequence cellular DNA probes flanking this provirus have now been identified and used to investigate the organization of wild-type chromosomes and chromosomes with radiation-induced d-se region mutations. As expected, several of these mutations are associated with deletions, and, in general, the molecular and genetic complementation maps of these mutants are concordant. Furthermore, a deletion break-point fusion fragment has been identified and has been used to orient the physical map of the d-se region with respect to the genetic complementation map. These experiments provide important initial steps for analyzing this developmentally important region at the molecular level, as well as for studying in detail how a diverse group of mutagens acts on the mammalian germline.


1969 ◽  
Vol 11 (4) ◽  
pp. 937-947 ◽  
Author(s):  
Johannes Horst Schröder

Hereditary changes in the shape of the vertebral column in Lebistes reticulatus appeared after ancestral irradiation of immature germ cells with 500 or 1000 R of X-rays. Although the mutant to wild-type ratios in the F2 generation after outcrossing fitted a digenic and a trigenic segregation ratio, respectively, the quantitative characters in question are assumed to be caused by recessive mutations of polygenes which are highly mutable.


1989 ◽  
Vol 9 (6) ◽  
pp. 2598-2605 ◽  
Author(s):  
E E Capowski ◽  
J M Wells ◽  
G S Harrison ◽  
K M Karrer

We have cloned two DNA fragments containing 5'-GATC-3' sites at which the adenine is methylated in the macronucleus of the ciliate Tetrahymena thermophila. Using these cloned fragments as molecular probes, we analyzed the maintenance of methylation patterns at two partially and two uniformly methylated sites. Our results suggest that a semiconservative copying model for maintenance of methylation is not sufficient to account for the methylation patterns we found during somatic growth of Tetrahymena. Although we detected hemimethylated molecules in macronuclear DNA, they were present in both replicating and nonreplicating DNA. In addition, we observed that a complex methylation pattern including partially methylated sites was maintained during vegetative growth. This required the activity of a methylase capable of recognizing and modifying sites specified by something other than hemimethylation. We suggest that a eucaryotic maintenance methylase may be capable of discriminating between potential methylation sites to ensure the inheritance of methylation patterns.


Genetics ◽  
1991 ◽  
Vol 129 (3) ◽  
pp. 825-832
Author(s):  
S K Sharan ◽  
B Holdener-Kenny ◽  
S Ruppert ◽  
A Schedl ◽  
G Kelsey ◽  
...  

Abstract Previous complementation analyses with five (c11DSD, c5FR60Hg, c2YPSj, c4FR60Hd, c6H) of the mouse albino deletions defined at least two genes on chromosome 7, known as eed and exed, which are necessary for development of the embryonic and extraembryonic ectoderm, respectively, of early postimplantation embryos. The region of chromosome 7 containing these two genes has now been accessed at the molecular level by cloning two of the deletion breakpoint-fusion fragments. The c2YPSj breakpoints were isolated by cloning an EcoRI fragment containing a copy of an albino region-specific repeat unique to c2YPSj DNA. Similarly, the c11DSD breakpoints were isolated by cloning a c11DSD EcoRI fragment detected by a unique-sequence probe mapping proximal to the albino-coat-color locus. By mapping the cloned breakpoints relative to the remaining three deletions, the c11DSD distal breakpoint was found to define the distal limit of the region containing eed, whereas the c2YPSj and c6H distal breakpoints were found to define the proximal and distal limits, respectively, of the region containing exed.


2020 ◽  
Vol 8 ◽  
Author(s):  
Yutong Zhang ◽  
Yulin Du ◽  
Yuting Zhuo ◽  
Liping Qiu

Cell is the structural and functional unit of organism. It serves as a key research object in various biological processes, such as growth, ontogeny, metabolism and stress. Studying the spatiotemporal distribution and functional activity of specific biological molecules in living cells is crucial for exploring the mechanism governing life. It also facilitates the elucidation of pathogenesis, clinical prevention and disease theranostics. In recent years, the fluorescence imaging technique has been greatly exploited for live-cell imaging. However, the development of molecular probes has lagged far behind. Functional nucleic acids (FNAs), for example, aptamer and DNAzyme, possess special chemical and/or biological functions, hence severing as promising molecular tools for cellular imaging. The current mini review focuses on the applications of FNAs in live-cell fluorescence imaging.


1973 ◽  
Vol 15 (3) ◽  
pp. 597-603 ◽  
Author(s):  
Ernest D. P. Whelan

A radiation-induced mutation of cucumber (Cucumis sativus L.) which affects plant pubescence is controlled by a single recessive gene. Mutant seedlings have glabrous hynocotyls, and mature plants have glabrous internodes and leaf petioles. The laminae, especially of the first true leaf, the node areas and the perianths are slightly pubescent (glabrate). This new gene is designated glb, glabrate. There was no evidence of linkage between this gene and glabrous (gl), non-bitter cotyledon (bi), light sensitive (ls), yellow cotyledon (yc) or crinkled-leaf (cr).A sister line of glb also segregated for a lethal mutation. Mutant seedlings had pale green, slightly smaller cotyledons, and died 6 to 7 days after emergence. The mutation was controlled by a single recessive gene, designated pl, pale lethal. The gene was not linked with either glabrate (gib) or non-bitter cotyledon (bi).


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