A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).

Congenital malformations resulting in late abortions and stillbirths affect the economic wellbeing of producers and the welfare of cattle in breeding programs. An extremely high incidence of stillbirths of "half-sized" calves of normal karyotype and uninflated lungs was diagnosed in the pr...

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Autores principales:	Krzysztof Flisikowski, Heli Venhoranta, Joanna Nowacka-Woszuk, Stephanie D McKay, Antti Flyckt, Juhani Taponen, Robert Schnabel, Hermann Schwarzenbacher, Izabela Szczerbal, Hannes Lohi, Ruedi Fries, Jeremy F Taylor, Marek Switonski, Magnus Andersson
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2010
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/9aad86bc80a14d2191179693b0692013
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spelling	oai:doaj.org-article:9aad86bc80a14d2191179693b06920132021-11-18T07:02:17ZA novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).1932-620310.1371/journal.pone.0015116https://doaj.org/article/9aad86bc80a14d2191179693b06920132010-11-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21152099/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Congenital malformations resulting in late abortions and stillbirths affect the economic wellbeing of producers and the welfare of cattle in breeding programs. An extremely high incidence of stillbirths of "half-sized" calves of normal karyotype and uninflated lungs was diagnosed in the progeny of the Finnish Ayrshire (Bos taurus) bull--YN51. No other visible anatomical abnormalities were apparent in the stillborn calves. We herein describe the positional identification of a 110 kb microdeletion in the maternally imprinted PEG3 domain that results in a loss of paternal MIMT1 expression and causes late term abortion and stillbirth in cattle. Using the BovineSNP50 BeadChip we performed a genome-wide half-sib linkage analysis that identified a 13.3 Mb associated region on BTA18 containing the maternally imprinted PEG3 domain. Within this cluster we found a 110 kb microdeletion that removes a part of the non-protein coding MER1 repeat containing imprinted transcript 1 gene (MIMT1). To confirm the elimination of gene expression in calves inheriting this deletion, we examined the mRNA levels of the three maternally imprinted genes within the PEG3 domain, in brain and cotyledon tissue collected from eight fetuses sired by the proband. None of the fetuses that inherited the microdeletion expressed MIMT1 in either tissue. The mutation, when inherited from the sire, is semi-lethal for his progeny with an observed mortality rate of 85%. The survival of 15% is presumably due to the incomplete silencing of maternally inherited MIMT1 alleles. We designed a PCR-based assay to confirm the existence of the microdeletion in the MIMT1 region that can be used to assist cattle breeders in preventing the stillbirths.Krzysztof FlisikowskiHeli VenhorantaJoanna Nowacka-WoszukStephanie D McKayAntti FlycktJuhani TaponenRobert SchnabelHermann SchwarzenbacherIzabela SzczerbalHannes LohiRuedi FriesJeremy F TaylorMarek SwitonskiMagnus AnderssonPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 5, Iss 11, p e15116 (2010)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Krzysztof Flisikowski Heli Venhoranta Joanna Nowacka-Woszuk Stephanie D McKay Antti Flyckt Juhani Taponen Robert Schnabel Hermann Schwarzenbacher Izabela Szczerbal Hannes Lohi Ruedi Fries Jeremy F Taylor Marek Switonski Magnus Andersson A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).
description	Congenital malformations resulting in late abortions and stillbirths affect the economic wellbeing of producers and the welfare of cattle in breeding programs. An extremely high incidence of stillbirths of "half-sized" calves of normal karyotype and uninflated lungs was diagnosed in the progeny of the Finnish Ayrshire (Bos taurus) bull--YN51. No other visible anatomical abnormalities were apparent in the stillborn calves. We herein describe the positional identification of a 110 kb microdeletion in the maternally imprinted PEG3 domain that results in a loss of paternal MIMT1 expression and causes late term abortion and stillbirth in cattle. Using the BovineSNP50 BeadChip we performed a genome-wide half-sib linkage analysis that identified a 13.3 Mb associated region on BTA18 containing the maternally imprinted PEG3 domain. Within this cluster we found a 110 kb microdeletion that removes a part of the non-protein coding MER1 repeat containing imprinted transcript 1 gene (MIMT1). To confirm the elimination of gene expression in calves inheriting this deletion, we examined the mRNA levels of the three maternally imprinted genes within the PEG3 domain, in brain and cotyledon tissue collected from eight fetuses sired by the proband. None of the fetuses that inherited the microdeletion expressed MIMT1 in either tissue. The mutation, when inherited from the sire, is semi-lethal for his progeny with an observed mortality rate of 85%. The survival of 15% is presumably due to the incomplete silencing of maternally inherited MIMT1 alleles. We designed a PCR-based assay to confirm the existence of the microdeletion in the MIMT1 region that can be used to assist cattle breeders in preventing the stillbirths.
format	article
author	Krzysztof Flisikowski Heli Venhoranta Joanna Nowacka-Woszuk Stephanie D McKay Antti Flyckt Juhani Taponen Robert Schnabel Hermann Schwarzenbacher Izabela Szczerbal Hannes Lohi Ruedi Fries Jeremy F Taylor Marek Switonski Magnus Andersson
author_facet	Krzysztof Flisikowski Heli Venhoranta Joanna Nowacka-Woszuk Stephanie D McKay Antti Flyckt Juhani Taponen Robert Schnabel Hermann Schwarzenbacher Izabela Szczerbal Hannes Lohi Ruedi Fries Jeremy F Taylor Marek Switonski Magnus Andersson
author_sort	Krzysztof Flisikowski
title	A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).
title_short	A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).
title_full	A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).
title_fullStr	A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).
title_full_unstemmed	A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).
title_sort	novel mutation in the maternally imprinted peg3 domain results in a loss of mimt1 expression and causes abortions and stillbirths in cattle (bos taurus).
publisher	Public Library of Science (PLoS)
publishDate	2010
url	https://doaj.org/article/9aad86bc80a14d2191179693b0692013
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A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).

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