Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

Evans, K; Fryer, Alan; Inglehearn, C. F.; Duvall-Young, Josephine; Whittaker, Joanne; Gregory, Cheryl Y.; Butler, Rachel; Ebenezer, Neil D.; Hunt, David M.; Bhattacharya, Siladitya

doi:10.1038/ng0294-210

Cited by 102 publications

(43 citation statements)

References 27 publications

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“…1 -q13.2 in a large pedigree also showed segregation distortion. 9 We studied the segregation of the expanded DM allele in Northern Ireland pedigrees and provide further evidence for preferential transmission of the disease associated expansion. It is interesting to look at cone-rod retinal dystrophy which also shows increased transmission (63%) from affected mothers to their offspring.9 Cone-rod retinal dystrophy is linked to 19ql3.1-13.2, just upstream from the DM region.…”

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confidence: 99%

Segregation distortion in myotonic dystrophy.

Magee

Hughes

1998

Journal of Medical Genetics

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Myotonic dystrophy (DM) is an autosomal dominant disease which, in the typical pedigree, shows a three generation anticipation cascade. This results in infertility and congenital myotonic dystrophy (CDM) with the disappearance of DM in that pedigree. The concept of segregation distortion, where there is preferential transmission ofthe larger allele at the DM locus, has been put forward to explain partially the maintenance of DM in the population. In a survey ofDM in Northern Ireland, 59 pedigrees were ascertained. Sibships where the status of all the members had been identified were examined to determine the transmission of the DM expansion from affected parents to their offspring. Where the transmitting parent was male, 58.3% of the offspring were affected, and in the case of a female transmitting parent, 68.7% were affected. Studies on meiotic drive in DM have shown increased transmission of the larger allele at the DM locus in non-DM heterozygotes for CTGn. This study provides further evidence that the DM expansion tends to be transmitted preferentially.

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confidence: 99%

Segregation distortion in myotonic dystrophy.

Magee

Hughes

1998

Journal of Medical Genetics

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“…Although this phenomenon has been reported in humans (Evans et al 1994;Vorechovsky et al 1999;Pardo-Manuel de Villena and Sapienza 2001) and mice (Wakasugi 1974;Lyon 1991;Wu et al 2005), little is known about its causes and prevalence in livestock species such as pigs. This TRD can originate from diverse biological mechanisms such as germline selection , meiotic drive (Agulnik et al 1990;Lyon 1991;Dyer et al 2007), gametic competition and imprinting errors Labbe et al 2013), embryo or fetal failure (Wakasugi 1974), and differential postnatal viability (Moore 2006;Casellas 2007).…”

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confidence: 99%

A Flexible Bayesian Model for Testing for Transmission Ratio Distortion

et al. 2014

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Current statistical approaches to investigate the nature and magnitude of transmission ratio distortion (TRD) are scarce and restricted to the most common experimental designs such as F 2 populations and backcrosses. In this article, we describe a new Bayesian approach to check TRD within a given biallelic genetic marker in a diploid species, providing a highly flexible framework that can accommodate any kind of population structure. This model relies on the genotype of each offspring and thus integrates all available information from either the parents' genotypes or population-specific allele frequencies and yields TRD estimates that can be corroborated by the calculation of a Bayes factor (BF). This approach has been evaluated on simulated data sets with appealing statistical performance. As a proof of concept, we have also tested TRD in a porcine population with five half-sib families and 352 offspring. All boars and piglets were genotyped with the Porcine SNP60 BeadChip, whereas genotypes from the sows were not available. The SNP-by-SNP screening of the pig genome revealed 84 SNPs with decisive evidences of TRD (BF . 100) after accounting for multiple testing. Many of these regions contained genes related to biological processes (e.g., nucleosome assembly and co-organization, DNA conformation and packaging, and DNA complex assembly) that are critically associated with embryonic viability. The implementation of this method, which overcomes many of the limitations of previous approaches, should contribute to fostering research on TRD in both model and nonmodel organisms.

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“…This phenomenon has been reported in a broad range of organisms including mammals (Canham et al 1970;Evans et al 1994;Vorechovsky et al 1999), insects (Nur 1977), and plants (Rhoades 1942;Vongs et al 1993). Several biological mechanisms can cause TRD, including the preferential transmission of one of the two alleles carried by a heterozygote to the zygote at the time of fertilization (Agulnik et al 1990;Lyon 1991;Dyer et al 2007), also known as meiotic drive, as well as embryo or fetal failure (Wakasugi 1974) or differential viability during early neonatal life under a given genotype (Moore 2006).…”

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confidence: 99%

Genome Scans for Transmission Ratio Distortion Regions in Mice

et al. 2012

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Transmission ratio distortion (TRD) is the departure from the expected genotypic frequencies under Mendelian inheritance. This departure can be due to multiple physiological mechanisms during gametogenesis, fertilization, fetal and embryonic development, and early neonatal life. Although a few TRD loci have been reported in mouse, inheritance patterns have never been evaluated for TRD. In this article, we developed a Bayesian binomial model accounting for additive and dominant deviation TRD mechanisms. Moreover, this model was used to perform genome-wide scans for TRD quantitative trait loci (QTL) on six F 2 mouse crosses involving between 296 and 541 mice and between 72 and 1854 genetic markers. Statistical significance of each model was checked at each genetic marker with Bayes factors. Genome scans revealed overdominance TRD QTL located in mouse chromosomes 1, 2, 12, 13, and 14 and additive TRD QTL in mouse chromosomes 2, 3, and 15, although these results did not replicate across mouse crosses. This research contributes new statistical tools for the analysis of specific genetic patterns involved in TRD in F 2 populations, our results suggesting a relevant incidence of TRD phenomena in mouse with important implications for both statistical analyses and biological research.

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Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

Cited by 102 publications

References 27 publications

Segregation distortion in myotonic dystrophy.

Segregation distortion in myotonic dystrophy.

A Flexible Bayesian Model for Testing for Transmission Ratio Distortion

Genome Scans for Transmission Ratio Distortion Regions in Mice

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