A Gc Silent Allele Encountered in a Paternity Case

1986 ◽  
Vol 36 (5) ◽  
pp. 326-329 ◽  
Author(s):  
K. Suzuki ◽  
S. Itoh ◽  
N. Kawai ◽  
T. Miyazaki ◽  
K. Matsui ◽  
...  
Keyword(s):  
Genetics ◽  
2003 ◽  
Vol 163 (3) ◽  
pp. 1135-1146 ◽  
Author(s):  
Surinder Chopra ◽  
Suzy M Cocciolone ◽  
Shaun Bushman ◽  
Vineet Sangar ◽  
Michael D McMullen ◽  
...  

Abstract We have characterized Unstable factor for orange1 (Ufo1), a dominant, allele-specific modifier of expression of the maize pericarp color1 (p1) gene. The p1 gene encodes an Myb-homologous transcriptional activator of genes required for biosynthesis of red phlobaphene pigments. The P1-wr allele specifies colorless kernel pericarp and red cobs, whereas Ufo1 modifies P1-wr expression to confer pigmentation in kernel pericarp, as well as vegetative tissues, which normally do not accumulate significant amounts of phlobaphene pigments. In the presence of Ufo1, P1-wr transcript levels and transcription rate are increased in kernel pericarp. The P1-wr allele contains approximately six p1 gene copies present in a hypermethylated and multicopy tandem array. In P1-wr Ufo1 plants, methylation of P1-wr DNA sequences is reduced, whereas the methylation state of other repetitive genomic sequences was not detectably affected. The phenotypes produced by the interaction of P1-wr and Ufo1 are unstable, exhibiting somatic mosaicism and variable penetrance. Moreover, the changes in P1-wr expression and methylation are not heritable: meiotic segregants that lack Ufo1 revert to the normal P1-wr expression and methylation patterns. These results demonstrate the existence of a class of modifiers of gene expression whose effects are associated with transient changes in DNA methylation of specific loci.


Plant Science ◽  
2021 ◽  
Vol 305 ◽  
pp. 110843
Author(s):  
Juan B. Alvarez ◽  
Laura Castellano ◽  
Ana B. Huertas-García ◽  
Carlos Guzmán

1969 ◽  
Vol 14 (3) ◽  
pp. 249-258 ◽  
Author(s):  
E. Zouros ◽  
C. B. Krimbas

Two polymorphic esterase loci, EstA and EstB, of the olive-fruit fly Dacus oleae were studied in a natural population. The analysis of about 500 individuals revealed the presence of 15 alleles for EstA and 12 alleles for EstB. A ‘silent’ allele was found segregating at both loci. Segregation data for most of the alleles are presented. The allele frequency distribution follows the same pattern at both loci: one allele of each gene has a frequency of nearly 0·50, a few have frequencies between 0·05 and 0·15 and many are below 0·05. Two main hypotheses, those of overdominance and selective neutrality, were examined in order to explain these polymorphisms. We deduced that under both hypotheses a relatively high mutation rate is necessary to balance the result of random drift. This rate was estimated to be higher than 4 × 10−5 for the EstA locus. Since homozygotes for the ‘silent’ allele at the first or at the second locus were found in the population in expected frequencies, it was concluded that these alleles are not inferior to active ones under natural conditions.


Blood ◽  
1993 ◽  
Vol 82 (2) ◽  
pp. 656-662 ◽  
Author(s):  
B Cherif-Zahar ◽  
V Raynal ◽  
C Le Van Kim ◽  
AM D'Ambrosio ◽  
P Bailly ◽  
...  

Red blood cell deficiency of Rh proteins is associated with morphologic and functional abnormalities of erythrocytes and with a chronic hemolytic anemia of varying severity. Rh-deficiency may be the result of homozygosity either for a silent allele at the RH locus (Rhnull amorph type) or for a recessive inhibitor gene(s) at an autosomal locus unlinked to RH locus (Rhnull regulator and Rhmod). In this report, we investigated the RH locus structure of Rh-deficient individuals by Southern analysis using cDNA and exon-specific probes deduced from the recent cloning of Rh genes (CcEe and D). As expected from family studies indicating that Rhmod and Rhnull regulator individuals are unable to express Rh antigens but are able to convey functional Rh genes from one generation to another, no alteration of the Rh genes was detected in these variants. Although Rhnull of the amorph type arose by inheritance of a pair of silent alleles at the RH locus, the general organization of the unique CcEe gene in the genome of the particular individual under examination was apparently normal and indistinguishable from a Rh-negative chromosome. More surprisingly, no mutation could be detected by sequencing the polymerase chain reaction (PCR)-amplified reticulocyte mRNAs, suggesting that the RH locus of this patient might be altered in its transcriptional activity. Through hybridization with exon-specific probes, we were also able to determine the zygosity for the D gene in DNA samples from individuals of known genotypes; using this approach, we found that Rhnull regulator variants could be either of the DD, Dd, or dd genotypes. These findings suggest that the postulated inhibitor gene(s) can negatively suppress the RH locus expression from chromosomes carrying either one or two of the Rh genes.


2007 ◽  
Vol 73 (1-3) ◽  
pp. 8-12 ◽  
Author(s):  
X.Y. Lan ◽  
C.Y. Pan ◽  
H. Chen ◽  
C.L. Zhang ◽  
J.Y. Li ◽  
...  

Transfusion ◽  
1990 ◽  
Vol 30 (9) ◽  
pp. 819-823
Author(s):  
T Yokoi ◽  
M Nata ◽  
Y Aoki ◽  
K Sagisaka
Keyword(s):  

2019 ◽  
Vol 42 ◽  
pp. 1-7
Author(s):  
Ugo A. Perego ◽  
Martin Bodner ◽  
Alessandro Raveane ◽  
Scott R. Woodward ◽  
Francesco Montinaro ◽  
...  

2007 ◽  
Vol 87 (1) ◽  
pp. 13-14 ◽  
Author(s):  
X. Y. Lan ◽  
C. Y. Pan ◽  
H. Chen ◽  
C. Z. Lei

We described a DdeI PCR-RFLP method for detecting silent allele at goat POU1F1 locus: p.S241S. Frequencies of D1 allele varied from 0.600 to 1.000 in eight Chinese native breeds. Association of DdeI RFLP genotypes with milk yield of dairy goat was significant (P < 0.05). Key words: Goat, POU1F1 gene, polymorphism, association, milk yield


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