Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib ( PHP1B ): Another Example of Transmission Ratio Distortion

2020 ◽  
Author(s):  
Zentaro Kiuchi ◽  
Monica Reyes ◽  
Harald Jüppner
Keyword(s):  
Autosomal Dominant ◽  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
Maternal Transmission ◽  
Ratio Distortion

scholarly journals Identification of Two Maternal Transmission Ratio Distortion Loci in Pedigrees of the Framingham Heart Study

2013 ◽  
Vol 3 (1) ◽  
Author(s):  
Yang Liu ◽  
Liangliang Zhang ◽  
Shuhua Xu ◽  
Landian Hu ◽  
Laurence D. Hurst ◽  
...  
Keyword(s):  
Framingham Heart Study ◽  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
Maternal Transmission ◽  
Heart Study ◽  
Ratio Distortion

scholarly journals A Multi-Megabase Copy Number Gain Causes Maternal Transmission Ratio Distortion on Mouse Chromosome 2

PLoS Genetics ◽  
2015 ◽  
Vol 11 (2) ◽  
pp. e1004850 ◽  
Author(s):  
John P. Didion ◽  
Andrew P. Morgan ◽  
Amelia M.-F. Clayshulte ◽  
Rachel C. Mcmullan ◽  
Liran Yadgary ◽  
...  
Keyword(s):  
Mouse Chromosome ◽  
Copy Number ◽  
Copy Number Gain ◽  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
Chromosome 2 ◽  
Maternal Transmission ◽  
Mouse Chromosome 2 ◽  
Ratio Distortion

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

2020 ◽  
Vol 35 (5) ◽  
pp. 913-919 ◽  
Author(s):  
Sarah Snanoudj ◽  
Arnaud Molin ◽  
Cindy Colson ◽  
Nadia Coudray ◽  
Sylvie Paulien ◽  
...  
Keyword(s):  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
Loss Of Function ◽  
Maternal Transmission ◽  
Ratio Distortion

Confirmation of maternal transmission ratio distortion at Om and direct evidence that the maternal and paternal “DDK syndrome” genes are linked

1997 ◽  
Vol 8 (9) ◽  
pp. 642-646 ◽  
Author(s):  
Fernando Pardo-Manuel de Villena ◽  
Anna K. Naumova ◽  
Andrei E. Verner ◽  
Wen-Hui Jin ◽  
Carmen Sapienza
Keyword(s):  
Direct Evidence ◽  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
Maternal Transmission ◽  
Ratio Distortion

scholarly journals Maternal Transmission Ratio Distortion at the Mouse Om Locus Results From Meiotic Drive at the Second Meiotic Division

Genetics ◽  
2005 ◽  
Vol 170 (1) ◽  
pp. 327-334 ◽  
Author(s):  
Guangming Wu ◽  
Lanping Hao ◽  
Zhiming Han ◽  
Shaorong Gao ◽  
Keith E. Latham ◽  
...  
Keyword(s):  
Meiotic Division ◽  
Meiotic Drive ◽  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
Maternal Transmission ◽  
Ratio Distortion

A Genetic Test to Determine the Origin of Maternal Transmission Ratio Distortion: Meiotic Drive at the Mouse Om Locus

Genetics ◽  
2000 ◽  
Vol 154 (1) ◽  
pp. 333-342 ◽  
Author(s):  
Fernando Pardo-Manuel de Villena ◽  
Elena de la Casa-Esperón ◽  
Tammi L Briscoe ◽  
Carmen Sapienza
Keyword(s):  
Genetic Test ◽  
Polar Body ◽  
Meiotic Drive ◽  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
Maternal Transmission ◽  
Chromosome 11 ◽  
Ratio Distortion ◽  
Second Polar Body ◽  
Mouse Chromosome 11

Abstract We have shown previously that the progeny of crosses between heterozygous females and C57BL/6 males show transmission ratio distortion at the Om locus on mouse chromosome 11. This result has been replicated in several independent experiments. Here we show that the distortion maps to a single locus on chromosome 11, closely linked to Om, and that gene conversion is not implicated in the origin of this phenomenon. To further investigate the origin of the transmission ratio distortion we generated a test using the well-known effect of recombination on maternal meiotic drive. The genetic test presented here discriminates between unequal segregation of alleles during meiosis and lethality, based on the analysis of genotype at both the distorted locus and the centromere of the same chromosome. We used this test to determine the cause of the transmission ratio distortion observed at the Om locus. Our results indicate that transmission ratio distortion at Om is due to unequal segregation of alleles to the polar body at the second meiotic division. Because the presence of segregation distortion at Om also depends on the genotype of the sire, our results confirm that the sperm can influence segregation of maternal chromosomes to the second polar body.

scholarly journals Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos

2006 ◽  
Vol 14 (3) ◽  
pp. 299-306 ◽  
Author(s):  
Nicola L Dean ◽  
J Concepción Loredo-Osti ◽  
T Mary Fujiwara ◽  
Kenneth Morgan ◽  
Seang Lin Tan ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Transmission Ratio Distortion ◽  
Preimplantation Embryos ◽  
Transmission Ratio ◽  
Ratio Distortion ◽  
Human Preimplantation Embryos

scholarly journals Transmission-Ratio Distortion Through F1 Females at Chromosome 11 Loci Linked to Om in the Mouse DDK Syndrome

Genetics ◽  
1996 ◽  
Vol 142 (4) ◽  
pp. 1299-1304
Author(s):  
F Pardo-Manuel de Villena ◽  
C Slamka ◽  
M Fonseca ◽  
A K Naumova ◽  
J Paquette ◽  
...  
Keyword(s):  
Genetic Model ◽  
Inbred Mouse ◽  
Transmission Ratio Distortion ◽  
Transmission Ratio ◽  
F1 Hybrids ◽  
Mouse Strains ◽  
Inbred Mouse Strains ◽  
Chromosome 11 ◽  
Ratio Distortion

Abstract We determined the genotypes of >200 offspring that are survivors of matings between female reciprocal F1 hybrids (between the DDK and C57BL/6J inbred mouse strains) and C57BL/6J males at markers linked to the Ovum mutant (Om) locus on chromosome 11. In contrast to the expectations of our previous genetic model to explain the “DDK syndrome,” the genotypes of these offspring do not reflect preferential survival of individuals that receive C57BL/6J alleles from the F1 females in the region of chromosome 11 to which the Om locus has been mapped. In fact, we observe significant transmission-ratio distortion in favor of DDK alleles in this region. These results are also in contrast to the expectations of Wakasugi's genetic model for the inheritance of Om, in which he proposed equal transmission of DDK and non-DDK alleles from F1 females. We propose that the results of these experiments may be explained by reduced expression of the maternal DDK Om allele or expression of the maternal DDK Om allele in only a portion of the ova of F1 females

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