Identification of a Line of Sheep Carrying a Putative Autosomal Gene Increasing Ovulation Rate in Sheep That Does Not Appear to Interact with Mutations in the Transforming Growth Factor Beta Superfamily1

Juengel, Jennifer L.; O’Connell, Anne R.; French, Michelle C.; Proctor, L.; Wheeler, Roger F.; Farquhar, P. A.; Dodds, K. G.; Galloway, Susan; Johnstone, P. D.; Davis, G. H.

doi:10.1095/biolreprod.110.090514

Cited by 20 publications

(13 citation statements)

References 34 publications

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“…The proteins with atypical glycosylation include members of the TGFB superfamily, and thus, the question still does remain whether this mutation interacts with the TGFB pathway. Analysis of another putative gene segregating in the AgResearch Fertility flock, the Davisdale, also indicates an additive effect with the Inverdale mutation (Juengel et al 2011c). Thus, it would not be unexpected to find that pathways other than the TGFB superfamily are likely to also be key regulators of ovulation rate in sheep.…”

Section: R113mentioning

confidence: 99%

Using sheep lines with mutations in single genes to better understand ovarian function

Juengel¹,

Davis²,

McNatty³

2013

Reproduction

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Livestock populations have been subjected to strong selection pressure to improve reproductive success, and this has led to the identification of lines of animals with increased fecundity. These animals provide a rich biological resource for discovery of genes and regulatory mechanisms that underpin improved reproductive success. To date, three genes, all related to the transforming growth factor b pathway, have been identified as having mutations that lead to alterations in ovulation in sheep. In addition, several other sheep lines have been identified with putative mutations in single genes with major effects on ovulation rate. This review is focused on the identification of the mutations affecting ovulation rate and how these discoveries have provided new insights into control of ovarian function.Reproduction (2013) 146 R111-R123

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Section: R113mentioning

confidence: 99%

Using sheep lines with mutations in single genes to better understand ovarian function

Juengel¹,

Davis²,

McNatty³

2013

Reproduction

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“…An inverse relationship matrix, which included pedigree information with the dam and sire of each ewe, was calculated with VFPEDIGREE and VPEDIGREE implemented in GenStat release 15.1 (VSN International). In addition, given the line breeding of the sires used to generate progeny, the relatedness among sires (see diagram in the article by Juengel et al [12]) was also included in the pedigree information. All traits were analyzed by restricted maximum likelihood using the pedigree information as a random factor and genotype as a fixed effect.…”

Section: Discussionmentioning

confidence: 99%

“…Several progeny tests from the Davisdale line have been described previously [12]. Daughters from sires M-O, Q, and R with available DNA samples were used in this study.…”

Section: Animalsmentioning

confidence: 99%

“…Johnstone, unpublished data). Of particular interest was the identification of several sires from the Davisdale line (a line of sheep carrying a putative autosomal gene increasing ovulation rate [12]) wherein closely related sires (full-or half-siblings and sire and son pairings) showed significant differences in age at puberty of their daughters. Thus, we hypothesized that mutations in single genes could have major effect on age at onset of puberty in sheep in this line.…”

Section: Introductionmentioning

confidence: 99%

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Single-Nucleotide Polymorphisms in the LEPR Gene Are Associated with Divergent Phenotypes for Age at Onset of Puberty in Davisdale Ewes1

Haldar¹,

French

Bräuning

et al. 2014

Biology of Reproduction

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Attainment of puberty is a key developmental event influenced by genetic and environmental factors. In examining age at attainment of puberty, we observed closely related rams from the Davisdale line whose daughters differed in age at which they attained puberty. A candidate gene approach was used to identify mutations that may underlie these observed differences. Four rams with divergent phenotypes for their daughter's age at onset of puberty were selected for whole-genome sequencing. The coding regions of genes with known roles in regulating reproductive function were searched for single-nucleotide polymorphisms (SNPs) that altered the amino acid sequence of the protein. Of interest were three SNPs in the leptin receptor gene (LEPR). A Sequenom assay was developed to determine the genotype of these SNPs in daughters of 17 sons of a founding sire. A higher percentage of ewe lambs homozygous for the LEPR mutations failed to undergo puberty before 1 yr of age, and those that did undergo puberty during the first breeding season on average were approximately 17 days older than homozygous wild-type ewes. Heterozygous ewes were intermediate for both measurements. Given the predicted change in protein function produced by the mutation in LEPR and the strong associations between the genotype and onset of puberty phenotypes, we propose that this mutation in LEPR underlies the observed difference in age at onset of puberty in the Davisdale line. Furthermore, these animals will likely provide a useful model to better understand the role of leptin in the regulation of puberty.

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“…For example, gene markers from known candidate genes and gene pathways were tested and shown to infl uence fertility characteristics such as litter size, time between litters, and age of fi rst litter in several domestic pig breeds (Sironen et al 2010 ). Similar approaches have been used to link markers associated with the transforming growth factor beta (TGFB) family with ovulation rates and follicular development (Juengel et al 2011 ) in sheep. And in pigs, this approach helped identify genes expressed in reproductive tissues that are involved in fat regulation and which are linked with reproduction traits such as total lifetime number of offspring born (Onteru et al 2011 ).…”

Section: Applied Reproductive Biotechnologies and Genomicsmentioning

confidence: 99%

The Role of Genomics in Conservation and Reproductive Sciences

Johnson

Koepfli

2014

Reproductive Sciences in Animal Conservation

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Genomics, the study of an organism's genome through DNA analyses, is a central part of the biological sciences and is rapidly changing approaches to animal conservation. The genomes of thousands of organisms, including vertebrates, invertebrates, and plants have been sequenced and the results annotated, augmented and refined through the application of new approaches in transcriptomics, proteomics, and metabolomics that enhance the characterization of messenger RNA, proteins, and metabolites. The same computational advances that are catalyzing "-omic" technologies and novel approaches to address fundamental research questions are facilitating bioinformatic analysis and enabling access of primary and derivative data and results in public and private databases (Zhao and Grant. Curr Pharm Biotechnol 12:293-305, 2011). These tools will be used to provide fundamental advances in our understanding of reproductive biology across vertebrate species and promise to revolutionize our approach to conservation biology.The vulnerability of animal populations and their genetic diversity is well documented, as are the myriad of causes and threats to their persistence, including habitat degradation and loss, overexploitation, pollution, invasive alien species, and climate change. Of the 64,283 vertebrates assessed by the International Union for Conservation of Nature in their 2012 Red List of Threatened Species, 7,250 or ~11 % are threatened with extinction, a percentage that has been increasing steadily for at least the last decade ( www.iucnredlist.org ). Among many of these species, important genetic diversity has been lost, thereby increasing their vulnerability as genetically diverse populations have higher fitness, generally are more resilient to environmental challenges, and have more adaptive potential (Reed and Frankham Conserv Biol 17:230-237, 2003; Luikart et al. Nat Rev Genet 4:981-994, 2003). In turn, genetic variation within and among populations may be essential to maintaining functional ecosystems, evolutionary process and will impact future food supplies, human health, biomaterial development and geopolitics (Myers and Knoll Proc Natl Acad Sci U S A 98:5389-5392, 2001; Templeton et al. Proc Natl Acad Sci U S A 98:5426-5432, 2001). Therefore, conservation of genetic diversity is a social, cultural, scientific, and economic prerogative and is the key to adaptation in the uncertain future of a human-dominated environment. Once lost, genetic resources are nearly impossible to regain, increasing the urgency of fundamental global approaches (e.g. www.cbd.int/sp/targets ).In this chapter we provide a review of current research and recent advances in biotechnology and genomic approaches for animal conservation and the management of genetic resources, with an emphasis on reproductive sciences. It is intended to provide information and insights for research and to provoke thoughts on how to take advantage of these opportunities.

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Identification of a Line of Sheep Carrying a Putative Autosomal Gene Increasing Ovulation Rate in Sheep That Does Not Appear to Interact with Mutations in the Transforming Growth Factor Beta Superfamily1

Cited by 20 publications

References 34 publications

Using sheep lines with mutations in single genes to better understand ovarian function

Using sheep lines with mutations in single genes to better understand ovarian function

Single-Nucleotide Polymorphisms in the LEPR Gene Are Associated with Divergent Phenotypes for Age at Onset of Puberty in Davisdale Ewes1

The Role of Genomics in Conservation and Reproductive Sciences

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