Mammalian Genome

article

Characterization of the bovine PRKAG3 gene: structure, polymorphism, and alternative transcripts

Matthieu Roux, Angélique Nizou, Lionel Forestier, Ahmed Ouali, more

Mammalian Genome > 2006 > 17 > 1 > 83-92

The bovine PRKAG3 gene encodes the AMPK γ3 subunit, one isoform of the regulatory γ subunit of the AMP-activated protein kinase (AMPK). The AMPK plays a major role in the regulation of energy metabolism and mutations affecting the genes encoding the γ subunits have been shown to influence AMPK activity. The γ3 subunit is involved in the regulation of AMPK activity in skeletal muscle and strongly inflences...

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Development of a deer mouse whole-genome radiation hybrid panel and comparative mapping of Mus chromosome 11 loci

Clifton M. Ramsdell, Elizabeth L. Thames, Julie L. Weston, Michael J. Dewey

Mammalian Genome > 2006 > 17 > 1 > 37-48

A 5000-rad whole-genome radiation hybrid cell panel (BW5000) was developed for mapping the deer mouse (Peromyscus maniculatus bairdii) genome. The panel consists of 103 cell lines and has an estimated marker retention frequency of 63.9% (range, 28%–88%) based on PCR typing of 30 Type I (coding gene) and 25 Type II (microsatellite) markers. Using the composite Mus map, Type I markers were selected...

article

Fine-mapping and candidate gene analysis of bovine spinal muscular atrophy

Stefan Krebs, Ivica Medugorac, Ingolf Russ, Pete Ossent, more

Mammalian Genome > 2006 > 17 > 1 > 67-76

Bovine spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disease, has been mapped at moderate resolution to the distal part of Chromosome 24. In this article we confirm this location and fine-map the SMA locus to an interval of approximately 0.8 cM at the very distal end of BTA24. Despite remarkable similarity to human SMA, the causative gene SMN can be excluded in bovine SMA...

article

The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence

Cord Drögemüller, Alexander Giese, Flávia Martins-Wess, Sabine Wiedemann, more

Mammalian Genome > 2006 > 17 > 1 > 58-66

The gene for agouti signaling protein (ASIP) is centrally involved in the expression of coat color traits in animals. The Mangalitza pig breed is characterized by a black-and-tan phenotype with black dorsal pigmentation and yellow or white ventral pigmentation. We investigated a Mangalitza × Piétrain cross and observed a coat color segregation pattern in the F₂ generation that can be explained by...

article

Quantitative trait locus analysis for obesity reveals multiple networks of interacting loci

Ioannis M. Stylianou, Ron Korstanje, Renhau Li, Susan Sheehan, more

Mammalian Genome > 2006 > 17 > 1 > 22-36

Obesity is a highly heritable and genetically complex trait with hundreds of potential loci identified. An intercross of 513 F₂ progeny between the SM/J × NZB/BINJ inbred mouse strains was generated to identify quantitative trait loci (QTL) that are involved in the weight of four fat pads: mesenteric, inguinal, gonadal, and retroperitoneal. Sex and lean body weight were treated as covariates in the...

article

Expression of a modified H19 RNA does not cause embryonic lethality in mice

Michael S. Carr, Kathryn A. Getek, John M. Levorse, Jennifer V. Schmidt

Mammalian Genome > 2006 > 17 > 1 > 5-13

The imprinted H19 gene produces a noncoding RNA of unknown function. Targeted and transgenic mouse mutations have shown that this RNA can be deleted and overexpressed without adverse effect. Yet one mutation of the H19 gene displayed an embryonic lethal phenotype in the mouse—the expression of an RNA modified by a short insertion near the 5′ end of the transcript (H19 ^Xba allele). Expression of...

article

Inefficient purifying selection: the mammalian Y chromosome in the rodent genus Mus

Sara A. Sandstedt, Priscilla K. Tucker

Mammalian Genome > 2006 > 17 > 1 > 14-21

Two related genes with potentially similar functions, one on the Y chromosome and one on the X chromosome, were examined to determine if they evolved differently because of their chromosomal positions. Six hundred fifty-seven base pairs of coding sequence of Jarid1d (Smcy) on the Y chromosome and Jarid1c (Smcx) on the X chromosome were sequenced in 13 rodent taxa. An analysis of replacement and silent...

article

Meeting report for the 4^thAnnual Complex Trait Consortium Meeting: From QTLs to Systems Genetics

David W. Threadgill

Mammalian Genome > 2006 > 17 > 1 > 2-4

The fourth annual meeting of the Complex Trait Consortium (CTC) was held in Groningen, the Netherlands on June 26–29, 2005. This meeting, which set a new attendance record, followed three previous and highly successful meetings. The focus at this meeting was on continued resource development and the exiting new field of systems genetics, the integration and anchoring of multi-dimensional data-types...

article

Angiogenesis and capillary maturation phenotypes associated with the Edpm3 locus on rat chromosome 3

Jyotsna Pandey, Douglas L. Wendell

Mammalian Genome > 2006 > 17 > 1 > 49-57

The quantitative trait locus (QTL) Edpm3 is one of a group of additively acting QTL \responsible for the difference in estrogen-induced pituitary tumor growth between the tumor-susceptible F344 and tumor-resistant BN rat strains. The F344.BN-Edpm3 ^BN rat strain was produced by moving the segment of rat Chr 3 between D3Mgh7 and D3Mgh13, which contains the Edpm3 QTL, from the BN strain into the F344...

article

Editorial

Steve Brown, Joe Nadeau

Mammalian Genome > 2006 > 17 > 1 > 1-1

article

Mutation in the Sp1 motif of the bovine leptin gene affects its expression

Tatiana Adamowicz, Krzysztof Flisikowski, Rafał Starzyński, Lech Zwierzchowski, more

Mammalian Genome > 2006 > 17 > 1 > 77-82

Leptin is expressed mainly by adipocytes and plays a crucial role in the regulation of energy expenditure, food intake, and adiposity. Using PCR-heteroduplex analysis and sequencing, we investigated a C/G substitution in the promoter region of the bovine leptin gene. Application of the electrophoretic mobility shift assay showed that the C→G transversion decreased the leptin gene promoter binding...

article

Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations

Nicholas W. Plummer, Teresa L. Squire, Sudha Srinivasan, Elizabeth Huang, more

Mammalian Genome > 2006 > 17 > 2 > 119-128

Cerebral cavernous malformations are vascular defects of the central nervous system consisting of clusters of dilated vessels that are subject to frequent hemorrhaging. The genes mutated in three forms of autosomal dominant cerebral cavernous malformations have been cloned, but it remains unclear which cell type is ultimately responsible for the lesion. In this article we describe mice with a gene...

article

Expression profiling identifies novel candidate genes for ethanol sensitivity QTLs

Erik J. MacLaren, Beth Bennett, Thomas E. Johnson, James M. Sikela

Mammalian Genome > 2006 > 17 > 2 > 147-156

The Inbred Long Sleep (ILS) and Inbred Short Sleep (ISS) mouse strains have a 16-fold difference in duration of loss of the righting response (LORR) following administration of a sedative dose of ethanol. Four quantitative trait loci (QTLs) have been mapped in these strains for this trait. Underlying each of these QTLs must be one or more genetic differences (polymorphisms in either gene coding or...

article

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease

Kathryn H. Shows, Christy Ward, Laura Summers, Lin Li, more

Mammalian Genome > 2006 > 17 > 2 > 168-177

Mutations in the human gene TCOF1 cause a mandibulofacial dysostosis known as Treacher Collins syndrome (TCS). An infant rhesus macaque (Macaca mulatta) that displayed the TCS phenotype was identified at the California National Primate Research Center. The TCOF1 coding region was cloned from a normal rhesus macaque and sequenced. The rhesus macaque homolog of TCOF1 is 91.6% identical in cDNA sequence...

article

Genotype-specific environmental impact on the variance of blood values in inbred and F₁ hybrid mice

Martina Klempt, Birgit Rathkolb, Edith Fuchs, Martin Hrabé de Angelis, more

Mammalian Genome > 2006 > 17 > 2 > 93-102

Mice are important models for biomedical research because of the possibility of standardizing genetic background and environmental conditions, which both affect phenotypic variability. Inbred mouse strains as well as F₁ hybrid mice are routinely used as genetically defined animal models; however, only a few studies investigated the variance of phenotypic parameters in inbred versus F₁ hybrid mice...

article

Two new behavioral QTLs, Emo4 and Reb1, map to mouse Chromosome 1: Congenic strains and candidate gene identification studies

Ana Maria Rodriguez Ledesma, Aarti N. Desai, Valerie J. Bolivar, Derek J. Symula, more

Mammalian Genome > 2006 > 17 > 2 > 111-118

By use of newly developed subcongenic strains of mice from a parental B6.129-Il10 ^−/− knockout/congenic strain, we have narrowed the critical region for a new behavioral QTL, called Emo4, for open-field activity to a segment of Chromosome 1 between Erbb4 (68.4Mb) and B3gnt7 (86.2 Mb). We have also uncovered an additional QTL governing repetitive beam breaks in the open field. This QTL, called Reb1...

article

Comparative phylogenetic analysis reveals multiple non-imprinted isoforms of opossum Dlk1

Jennifer R. Weidman, Kristin A. Maloney, Randy L. Jirtle

Mammalian Genome > 2006 > 17 > 2 > 157-167

Imprinted genes are monoallelically expressed in a parent-of-origin manner and were previously identified in both marsupials and eutherians, but not in monotremes. Phylogenetic comparison of imprinted domains is a powerful tool for investigating the molecular and adaptive evolution of this unique gene regulatory mechanism. Herein, we report that multiple transcripts of Dlk1 (Delta, Drosophila, Homolog-like 1...

article

The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein

Lisa Chakrabarti, James T. Neal, Michael Miles, Refugio A. Martinez, more

Mammalian Genome > 2006 > 17 > 2 > 103-110

In the mouse, Purkinje cell degeneration (pcd) is a recessive mutation characterized by degeneration of cerebellar Purkinje cells, retinal photoreceptors, olfactory bulb mitral neurons, and certain thalamic neurons, and is accompanied by defective spermatogenesis. Previous studies of pcd have led to the identification of Nna1 as the causal gene; however, how loss of Nna1 function results in neurodegeneration...

article

Identification of a tandem duplicated array in the Rhox α locus on mouse chromosome X

Lucy Morris, Julie Gordon, C. Clare Blackburn

Mammalian Genome > 2006 > 17 > 2 > 178-187

The Rhox family of homeobox-containing genes maps to three gene dense clusters, α, β, and γ, on the mouse X chromosome. Rhox genes are expressed primarily in reproductive and extra-embryonic tissues and may be regulated by colinear mechanisms. Uniquely among family members, Rhox4 is also expressed in the developing and adult thymus, where its striking restriction to the third pharyngeal pouch has...

article

A protocol for high-throughput phenotyping, suitable for quantitative trait analysis in mice

Leah C. Solberg, William Valdar, Dominique Gauguier, Graciela Nunez, more

Mammalian Genome > 2006 > 17 > 2 > 129-146

Whole-genome genetic association studies in outbred mouse populations represent a novel approach to identifying the molecular basis of naturally occurring genetic variants, the major source of quantitative variation between inbred strains of mice. Measuring multiple phenotypes in parallel on each mouse would make the approach cost effective, but protocols for phenotyping on a large enough scale have...

INFONA - science communication portal

Mammalian Genome

Characterization of the bovine PRKAG3 gene: structure, polymorphism, and alternative transcripts

Development of a deer mouse whole-genome radiation hybrid panel and comparative mapping of Mus chromosome 11 loci

Fine-mapping and candidate gene analysis of bovine spinal muscular atrophy

The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence

Quantitative trait locus analysis for obesity reveals multiple networks of interacting loci

Expression of a modified H19 RNA does not cause embryonic lethality in mice

Inefficient purifying selection: the mammalian Y chromosome in the rodent genus Mus

Meeting report for the 4^thAnnual Complex Trait Consortium Meeting: From QTLs to Systems Genetics

Angiogenesis and capillary maturation phenotypes associated with the Edpm3 locus on rat chromosome 3

Editorial

Mutation in the Sp1 motif of the bovine leptin gene affects its expression

Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations

Expression profiling identifies novel candidate genes for ethanol sensitivity QTLs

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease

Genotype-specific environmental impact on the variance of blood values in inbred and F₁ hybrid mice

Two new behavioral QTLs, Emo4 and Reb1, map to mouse Chromosome 1: Congenic strains and candidate gene identification studies

Comparative phylogenetic analysis reveals multiple non-imprinted isoforms of opossum Dlk1

The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein

Identification of a tandem duplicated array in the Rhox α locus on mouse chromosome X

A protocol for high-throughput phenotyping, suitable for quantitative trait analysis in mice

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