Paternal bias in parental origin ofHRASmutations in Costello syndrome

2006 ◽  
Vol 27 (8) ◽  
pp. 736-741 ◽  
Author(s):  
Katia Sol-Church ◽  
Deborah L. Stabley ◽  
Linda Nicholson ◽  
Iris L. Gonzalez ◽  
Karen W. Gripp
Keyword(s):  
Parental Origin ◽  
Costello Syndrome

Parental origin of diabetes-associated HLA types in sibling pairs with type I diabetes

Diabetes ◽  
1994 ◽  
Vol 43 (12) ◽  
pp. 1462-1468 ◽  
Author(s):  
S. C. Bain ◽  
B. R. Rowe ◽  
A. H. Barnett ◽  
J. A. Todd
Keyword(s):  
Type I Diabetes ◽  
Parental Origin ◽  
Type I ◽  
Sibling Pairs

COSTELLO SYNDROME

2020 ◽  
pp. 225-240
Author(s):  
Bronwyn Kerr ◽  
Karen W. Gripp ◽  
Emma M.M. Burkitt Wright
Keyword(s):  
Costello Syndrome

scholarly journals Molecular Analysis of Nondisjunction in Mice Heterozygous for a Robertsonian Translocation

Genetics ◽  
2002 ◽  
Vol 161 (3) ◽  
pp. 1219-1224
Author(s):  
Lara A Underkoffler ◽  
Laura E Mitchell ◽  
A Russell Localio ◽  
Shannon M Marchegiani ◽  
Justin Morabito ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Robertsonian Translocation ◽  
Metacentric Chromosome ◽  
Paternal Age ◽  
Chromosome 7 ◽  
Parental Origin ◽  
Molecular Genotyping ◽  
Factors Influencing ◽  
Meiotic Nondisjunction ◽  
Acrocentric Chromosomes

Abstract A Robertsonian translocation results in a metacentric chromosome produced by the fusion of two acrocentric chromosomes. Rb heterozygous mice frequently generate aneuploid gametes and embryos, providing a good model for studying meiotic nondisjunction. We intercrossed mice heterozygous for a (7.18) Robertsonian translocation and performed molecular genotyping of 1812 embryos from 364 litters with known parental origin, strain, and age. Nondisjunction events were scored and factors influencing the frequency of nondisjunction involving chromosomes 7 and 18 were examined. We concluded the following: The frequency of nondisjunction among 1784 embryos (3568 meioses) was 15.9%.Nondisjunction events were distributed nonrandomly among progeny. This was inferred from the distribution of the frequency of trisomics and uniparental disomics (UPDs) among all litters.There was no evidence to show an effect of maternal or paternal age on the frequency of nondisjunction.Strain background did not play an appreciable role in nondisjunction frequency.The frequency of nondisjunction for chromosome 18 was significantly higher than that for chromosome 7 in males.The frequency of nondisjunction for chromosome 7 was significantly higher in females than in males. These results show that molecular genotyping provides a valuable tool for understanding factors influencing meiotic nondisjunction in mammals.

scholarly journals The Evolution of Genomic Imprinting

Genetics ◽  
1996 ◽  
Vol 144 (3) ◽  
pp. 1283-1295 ◽  
Author(s):  
Atsushi Mochizuki ◽  
Yasuhiko Takeda ◽  
Yoh Iwasa
Keyword(s):  
Growth Factor ◽  
Genomic Imprinting ◽  
Parental Origin ◽  
Coding Region ◽  
Placental Development ◽  
Genetic Conflict ◽  
Multiple Partners ◽  
Zygotic Gene ◽  
Mammalian Genes ◽  
Maternal Resources

Abstract In some mammalian genes, the paternally and maternally derived alleles are expressed differently: this phenomenon is called genomic imprinting. Here we study the evolution of imprinting using multivariate quantitative genetic models to examine the feasibility of the genetic conflict hypothesis. This hypothesis explains the observed imprinting patterns as an evolutionary outcome of the conflict between the paternal and maternal alleles. We consider the expression of a zygotic gene, which codes for an embryonic growth factor affecting the amount of maternal resources obtained through the placenta. We assume that the gene produces the growth factor in two different amounts depending on its parental origin. We show that genomic imprinting evolves easily if females have some probability of multiple partners. This is in conflict with the observation that not all genes controlling placental development are imprinted and that imprinting in some genes is not conserved between mice and humans. We show however that deleterious mutations in the coding region of the gene create selection against imprinting.

scholarly journals Distribution of diandric and digynic triploidy depending on gestational age

2021 ◽  
Author(s):  
Diana Massalska ◽  
Katarzyna Ozdarska ◽  
Tomasz Roszkowski ◽  
Julia Bijok ◽  
Anna Kucińska-Chahwan ◽  
...  
Keyword(s):  
Gestational Age ◽  
Pregnancy Loss ◽  
First Trimester ◽  
Parental Origin ◽  
Second Trimester ◽  
Chain Reaction ◽  
Spontaneous Pregnancy ◽  
First Trimester Of Pregnancy ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction

Abstract Purpose To establish the distribution of diandric and digynic triploidy depending on gestational age. Methods 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of triploidy by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) (n=95) with the use of matching parental samples or by MS-MLPA (n=12), when parental samples were unavailable. Tested pregnancies were divided into three subgroups with regard to the gestational age at spontaneous pregnancy loss: <11 gestational weeks, 11–14 gestational weeks, and >14 gestational weeks. Results Diandric triploidy constituted overall 44.9% (46.5% in samples miscarried <11 gestational weeks, 64.3% in samples miscarried between 11 and 14 gestational weeks, and 27.8% in pregnancies which survived >14 gestational weeks). Conclusions The distribution of diandric and digynic triploidy depends on gestational age. The majority of diandric triploid pregnancies is lost in the first trimester of pregnancy. In the second trimester, diandric cases are at least twice less frequent than digynic ones.

scholarly journals Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations

2020 ◽  
Vol 55 (2) ◽  
pp. 274-275
Author(s):  
M. Schøler Nørgaard ◽  
R. Mogra ◽  
J. Pinner ◽  
K. O. Kagan ◽  
M. Warming Jørgensen ◽  
...  
Keyword(s):  
Costello Syndrome ◽  
Exon 1

PTMS16 Enhanced human brain associative plasticity in Costello syndrome

2011 ◽  
Vol 122 ◽  
pp. S185
Author(s):  
M. Dileone ◽  
P. Profice ◽  
F. Ranieri ◽  
F. Capone ◽  
L. Florio ◽  
...  
Keyword(s):  
Human Brain ◽  
Costello Syndrome

Costello syndrome

1995 ◽  
Vol 32 (5) ◽  
pp. 904-907 ◽  
Author(s):  
Antonio Torrelo ◽  
Angel López-Avila ◽  
Imelda G Mediero ◽  
Antonio Zambrano
Keyword(s):  
Costello Syndrome
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