scholarly journals Deficiency of the paternally inherited gene Magel2 alters the development of separation induced vocalization in mice

2021 ◽  
Author(s):  
Gabriela M. Bosque Ortiz ◽  
Gustavo M. Santana ◽  
Marcelo O. Dietrich

Offspring behavior results from the combined expression of maternal and paternal genes. Genomic imprinting, however, silences some genes in a parent-of-origin specific manner, a process that, among all animals, occurs only in mammals. How genomic imprinting affects the behavior of mammalian offspring remains poorly understood. Here we studied the effects of the loss of the paternally inherited gene Magel2 on the emission of separation-induced ultrasonic vocalization (USV) by mouse pups. Using quantitative analysis of more than one hundred thousand USVs, we characterized the rate of vocalizations as well as their spectral features from postnatal days 6 to 12 (P6-P12), a critical phase during mouse development when pups fully depend on the mother for survival. Our analyses show that Magel2 deficient offspring emit separation-induced vocalizations at lower rates and with altered spectral features. Using methods for a holistic analysis of the entire vocal repertoire of pups, we found that Magel2 deficient mice at postnatal day 8 (P8) emit USVs that resemble the vocal repertoire of wildtype mice at older ages (P10-12). These results suggest that the deficiency of this paternally inherited gene impairs the expression of separation-induced vocalization in pups, a behavior that supports pup growth and development.

Reproduction ◽  
2006 ◽  
Vol 132 (3) ◽  
pp. 455-464 ◽  
Author(s):  
Akiko Hasegawa ◽  
Nozomi Kanazawa ◽  
Hideaki Sawai ◽  
Shinji Komori ◽  
Koji Koyama

The zona pellucida, an extracellular matrix surrounding mammalian oocytes, is composed of three or four glycoproteins. It is well known that the zona pellucida plays several critical roles during fertilization, but there is little knowledge about its formation. The purpose of this study is to examine whether a pig zona pellucida glycoprotein 2 (pZP2) would assemble with mouse zona pellucida. A transgene construct was prepared by placing a minigene encoding pZP2 downstream from the promoter of mouse ZP2. The result showed that the transgenic protein was synthesized in growing oocytes but not incorporated into the zona pellucida. Furthermore, the pZP2 transgene did not rescue the phenotype in ZP2-knockout zona-deficient mice. These results indicate that pZP2 does not participate in mouse zona pellucida formation and the zona pellucida is constituted from its component proteins in a molecular species-specific manner between mice and pigs.


2013 ◽  
Vol 14 (9) ◽  
pp. 609-617 ◽  
Author(s):  
Heather A. Lawson ◽  
James M. Cheverud ◽  
Jason B. Wolf

2018 ◽  
Vol 115 (42) ◽  
pp. E9962-E9970 ◽  
Author(s):  
Haifeng Zhu ◽  
Wenxiang Xie ◽  
Dachao Xu ◽  
Daisuke Miki ◽  
Kai Tang ◽  
...  

Genomic imprinting is a form of epigenetic regulation resulting in differential gene expression that reflects the parent of origin. In plants, imprinted gene expression predominantly occurs in the seed endosperm. Maternal-specific DNA demethylation by the DNA demethylase DME frequently underlies genomic imprinting in endosperm. Whether other more ubiquitously expressed DNA demethylases regulate imprinting is unknown. Here, we found that the DNA demethylase ROS1 regulates the imprinting of DOGL4. DOGL4 is expressed from the maternal allele in endosperm and displays preferential methylation and suppression of the paternal allele. We found that ROS1 negatively regulates imprinting by demethylating the paternal allele, preventing its hypermethylation and complete silencing. Furthermore, we found that DOGL4 negatively affects seed dormancy and response to the phytohormone abscisic acid and that ROS1 controls these processes by regulating DOGL4. Our results reveal roles for ROS1 in mitigating imprinted gene expression and regulating seed dormancy.


eLife ◽  
2018 ◽  
Vol 7 ◽  
Author(s):  
Anne C Ferguson-Smith ◽  
Deborah Bourchis

The discovery of genomic imprinting by Davor Solter, Azim Surani and co-workers in the mid-1980s has provided a foundation for the study of epigenetic inheritance and the epigenetic control of gene activity and repression, especially during development. It also has shed light on a range of diseases, including both rare genetic disorders and common diseases. This article is being published to celebrate Solter and Surani receiving a 2018 Canada Gairdner International Award "for the discovery of mammalian genomic imprinting that causes parent-of-origin specific gene expression and its consequences for development and disease".


2009 ◽  
Vol 30 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Erin N. McMurray ◽  
Eric D. Rogers ◽  
Jennifer V. Schmidt

The insertional mouse mutation Adp (Acrodysplasia) confers a parent-of-origin developmental phenotype, with animals inheriting the mutation from their father showing skeletal abnormalities, whereas those inheriting the mutation from their mother are normal. This parental-specific phenotype, along with mapping of the insertion to a region of chromosome 12 proposed to contain imprinted genes, suggested that disruption of genomic imprinting might underlie the Adp phenotype. Genomic imprinting is the process by which autosomal genes are epigenetically silenced on one of the two parental alleles; imprinting mutation phenotypes manifest after inheritance from one parent but not the other. Imprinted genes typically occur in dense clusters that contain few non-imprinted genes and therefore representative genes from the Adp critical region could be assayed to identify any imprinted domains. None of the genes analysed were found to be imprinted, however, suggesting that other explanations for the Adp phenotype must be considered.


2019 ◽  
Vol 374 (1768) ◽  
pp. 20180181 ◽  
Author(s):  
Carmen Emborski ◽  
Alexander S. Mikheyev

Parent-of-origin effects, whereby specific phenotypes are differentially inherited paternally or maternally, provide useful clues to better understand transgenerational effect transmission. Ancestral diet influences offspring phenotypes, including body composition and fitness. However, the specific role that mothers and fathers play in the transmission of altered phenotypes to male and female offspring remains unclear. We investigated the influence of the parent-of-origin's diet on adult progeny phenotypes and reproductive output for three generations in fruit flies ( Drosophila melanogaster ). Males and females reared on a control diet were exposed to the control diet or one of two altered (no- or high-) sugar treatment diets for a single generation. Flies from one of the two altered diet treatments were then mated to control flies in a full-factorial design to produce F 1 offspring and kept on control media for each following generation. We found parent-of-origin (triglyceride) and non-parent-of-origin (sugar) body composition effects, which were transgenerational and sex-specific. Additionally, we observed a negative correlation between intergenerational maternal reproductive output and triglyceride levels, suggesting that ancestral diet may affect fitness. This work demonstrates that ancestral diet can transmit altered phenotypes in a parent-of-origin and sex-specific manner and highlights that mechanisms regulating such transmission have been greatly overlooked. This article is part of the theme issue ‘The role of plasticity in phenotypic adaptation to rapid environmental change’.


2013 ◽  
Vol 123 (3-4) ◽  
pp. 22-33 ◽  
Author(s):  
Kozue Uchio-Yamada ◽  
Kyoko Sawada ◽  
Kotaro Tamura ◽  
Sumie Katayama ◽  
Youko Monobe ◽  
...  

2003 ◽  
Vol 23 (11) ◽  
pp. 3929-3935 ◽  
Author(s):  
Nina Korsisaari ◽  
Derrick J. Rossi ◽  
Keijo Luukko ◽  
Kay Huebner ◽  
Mark Henkemeyer ◽  
...  

ABSTRACT The histidine triad (HIT) protein Hint has been found to associate with mammalian Cdk7, as well as to interact both physically and genetically with the budding yeast Cdk7 homologue Kin28. To study the function of Hint and to explore its possible role in modulating Cdk7 activity in vivo, we have characterized the expression pattern of murine Hint and generated Hint-deficient (Hint −/−) mice. Hint was widely expressed during mouse development, with pronounced expression in several neuronal ganglia, epithelia, hearts, and testes from embryonic day 15 onward. Despite this widespread expression, disruption of Hint did not impair murine development. Moreover, Hint-deficient mice had a normal life span and were apparently healthy. Histological examination of tissues with high Hint expression in wild-type animals did not show signs of abnormal pathology in Hint −/− mice. Functional redundancy within the HIT family was addressed by crossing Hint −/− mice with mice lacking the related HIT protein, Fhit, and by assaying the expression levels of the HIT protein gene family members Hint2 and Hint3 in Hint +/+ and Hint −/− tissues. Finally, Cdk7 kinase activity and cell cycle kinetics were found to be comparable in wild-type and Hint −/− mouse embryonic fibroblasts, suggesting that Hint may not be a key regulator of Cdk7 activity.


2003 ◽  
Vol 23 (24) ◽  
pp. 9245-9250 ◽  
Author(s):  
Sarah J. Plowman ◽  
D. James Williamson ◽  
Maureen J. O'Sullivan ◽  
Jennifer Doig ◽  
Ann-Marie Ritchie ◽  
...  

ABSTRACT In mammals, the three classical ras genes encode four highly homologous proteins, N-Ras, H-Ras, and the isoforms K-Ras 4A and 4B. Previous studies have shown that K-ras is essential for mouse development and that while K-ras 4A and 4B are expressed during development, K-ras 4A expression is regulated temporally and spatially and occurs in adult kidney, intestine, stomach, and liver. In the present study, the pattern of K-ras 4A expression was examined in a wide range of wild-type adult mouse tissues, and gene targeting was used to generate K-ras 4A-deficient mice to examine its role in development. It was found that K-ras 4A is also expressed in uterus, lung, pancreas, salivary glands, seminal vesicles, bone marrow cells, and cecum, where it was the major K-Ras isoform expressed. Mating between K-ras tmΔ4A/+ mice produced viable K-ras tmΔ4A/tmΔ4A offspring with the expected Mendelian ratios of inheritance, and these mice expressed the K-ras 4B splice variant only. K-ras tmΔ4A/tmΔ4A mice were fertile and showed no histopathological abnormalities on inbred (129/Ola) or crossbred (129/Ola × C57BL/6) genetic backgrounds. The results demonstrate that K-Ras 4A, like H- and N-Ras, is dispensable for normal mouse development, at least in the presence of functional K-Ras 4B.


2004 ◽  
Vol 385 (10) ◽  
pp. 905-911 ◽  
Author(s):  
Hervé Seitz ◽  
Hélène Royo ◽  
Shau-Ping Lin ◽  
Neil Youngson ◽  
Anne C. Ferguson-Smith ◽  
...  

Abstract Genomic imprinting is an epigenetic phenomenon that results in differential expression of both alleles, depending on their parent of origin. We have recently identified many imprinted small non-coding RNA genes belonging to the C/D RNA and microRNA gene families, both of which are usually known to play key roles in post-transcriptional metabolism of specific genes (e.g. C/D RNAs guide ribose methylation of target RNAs while microRNAs elicit either translational repression or RNA interference). Although the functional and evolutionary significance of this association between C/D RNA genes, microRNA genes and genomic imprinting is still highly elusive, these observations provide a framework for further analysis of the potential role of small non-coding RNAs in epigenetic control.


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