Brenig, Bertram B.

[["dc.bibliographiccitation.artnumber","28438"],["dc.bibliographiccitation.journal","Scientific Reports"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Menzi, Fiona"],["dc.contributor.author","Keller, Irene"],["dc.contributor.author","Reber, Irene"],["dc.contributor.author","Beck, Julia"],["dc.contributor.author","Brenig, Bertram"],["dc.contributor.author","Schuetz, Ekkehard"],["dc.contributor.author","Leeb, Tosso"],["dc.contributor.author","Drogemuller, Cord"],["dc.date.accessioned","2018-11-07T10:12:40Z"],["dc.date.available","2018-11-07T10:12:40Z"],["dc.date.issued","2016"],["dc.description.abstract","The South African Boer goat displays a characteristic white spotting phenotype, in which the pigment is limited to the head. Exploiting the existing phenotype variation within the breed, we mapped the locus causing this white spotting phenotype to chromosome 17 by genome wide association. Subsequent whole genome sequencing identified a 1 Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats. We propose a hypothesis that ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely lead to an absence of melanocytes in the non-pigmented body areas of Boer goats. Our findings demonstrate the value of domestic animals as reservoir of unique mutants and for identifying a precisely defined functional CNV."],["dc.description.sponsorship","Swiss National Science Foundation [31003A_149313]"],["dc.identifier.doi","10.1038/srep28438"],["dc.identifier.isi","000378573900001"],["dc.identifier.pmid","27329507"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13477"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40282"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","2045-2322"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0/"],["dc.title","Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","20"],["dc.bibliographiccitation.journal","BMC Genomics"],["dc.bibliographiccitation.volume","4"],["dc.contributor.author","Martins-Wess, F."],["dc.contributor.author","Milan, D."],["dc.contributor.author","Drogemuller, Cord"],["dc.contributor.author","Voss-Nemitz, R."],["dc.contributor.author","Brenig, Bertram"],["dc.contributor.author","Robic, A."],["dc.contributor.author","Yerle, M."],["dc.contributor.author","Leeb, Tosso"],["dc.date.accessioned","2018-11-07T10:38:59Z"],["dc.date.available","2018-11-07T10:38:59Z"],["dc.date.issued","2003"],["dc.description.abstract","Background: The generation of BAC/PAC contigs in targeted genome regions is a powerful method to establish high-resolution physical maps. In domestic animal species the generation of such contigs is typically initiated with the screening of libraries with probes derived from human genes that are expected to be located in the region of interest by comparative mapping. However, in many instances the available gene-derived probes are too far apart to allow the cloning of BAC/PAC contigs larger than a few hundred kb. High resolution physical mapping allows to estimate the sizes of gaps and to control the orientation of the individual sub-contigs, which helps to avoid errors during the assembly of smaller contigs into final Mb-sized contigs. The recently constructed porcine IMNpRH2 panel allowed us to use this approach for the construction of high-resolution physical maps of SSC 6q1.2. Results: Two sequence-ready BAC/PAC contigs of the gene-rich region on porcine chromosome 6q1.2 (SSC 6q1.2) containing the RYR1 gene were constructed. The two contigs spanned about 1.2 Mb and 2.0 Mb respectively. The construction of these contigs was monitored by the results provided by the mapping of 15 markers on the IMpRH(7000rad) and 35 markers on the IMNpRH2(12000rad) radiation hybrid panels. Analyses on the IMpRH panel allowed us to globally link and orientate preliminary smaller contigs, whereas analyses on the high resolution IMNpRH2 panel allowed us to finally identify the order of genes and markers. Conclusions: A framework map of 523 cR(12000) was established covering the whole studied region. The order of markers on the framework 1000: 1 RH map was found totally consistent with the data deduced from the contig map. The kb/cR ratio was very constant in the whole region, with an average value of 6.6 kb/cR. We estimate that the size of the remaining gap between the two contigs is of about 300 kb. The integrated physical and RH map of the investigated region on SSC 6q1.2 was used for a comparative analysis with respect to the syntenic regions on HSA 19q13.1 and MMU 7 and revealed a perfectly conserved gene order across the entire studied interval."],["dc.identifier.doi","10.1186/1471-2164-4-20"],["dc.identifier.isi","000183614900001"],["dc.identifier.pmid","12744726"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/4444"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/45936"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1471-2164"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","A high resolution physical and RH map of pig chromosome 6q1.2 and comparative analysis with human chromosome 19q13.1"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e0180170"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","12"],["dc.contributor.author","Mishra, Nivedita Awasthi"],["dc.contributor.author","Droegemueller, Cord"],["dc.contributor.author","Jagannathan, Vidhya"],["dc.contributor.author","Keller, Irene"],["dc.contributor.author","Wuthrich, Daniel"],["dc.contributor.author","Bruggmann, Remy"],["dc.contributor.author","Beck, Julia"],["dc.contributor.author","Schuetz, Ekkehard"],["dc.contributor.author","Brenig, Bertram"],["dc.contributor.author","Demmel, Steffi"],["dc.contributor.author","Moser, Simon"],["dc.contributor.author","Signer-Hasler, Heidi"],["dc.contributor.author","Pienkowska-Schelling, Aldona"],["dc.contributor.author","Schelling, Claude"],["dc.contributor.author","Sande, Marcos"],["dc.contributor.author","Rongen, Ronald"],["dc.contributor.author","Rieder, Stefan"],["dc.contributor.author","Kelsh, Robert N."],["dc.contributor.author","Mercader, Nadia"],["dc.contributor.author","Leeb, Tosso"],["dc.date.accessioned","2018-11-07T10:22:29Z"],["dc.date.available","2018-11-07T10:22:29Z"],["dc.date.issued","2017"],["dc.description.abstract","Belted cattle have a circular belt of unpigmented hair and skin around their midsection. The belt is inherited as a monogenic autosomal dominant trait. We mapped the causative variant to a 37 kb segment on bovine chromosome 3. Whole genome sequence data of 2 belted and 130 control cattle yielded only one private genetic variant in the critical interval in the two belted animals. The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene. Increased copy numbers at this CNV were strongly associated with the belt phenotype in a cohort of 333 cases and 1322 controls. We hypothesized that the CNV causes aberrant expression of TWIST2 during neural crest development, which might negatively affect melanoblasts. Functional studies showed that ectopic expression of bovine TWIST2 in neural crest in transgenic zebrafish led to a decrease in melanocyte numbers. Our results thus implicate an unsuspected involvement of TWIST2 in regulating pigmentation and reveal a non-coding CNV underlying a captivating Mendelian character."],["dc.description.sponsorship","SNF [31003A_149313, 31003A_15972]"],["dc.identifier.doi","10.1371/journal.pone.0180170"],["dc.identifier.isi","000404607900065"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/14552"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/42287"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Public Library Science"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0/"],["dc.title","A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattle"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]