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Abstract Background Simple and precise methods for sex determination in animals are a pre-requisite for a number of applications in animal production and forensics. However, some of the existing methods depend only on the detection of Y-chromosome specific sequences. Therefore, the abscence of a signal does not necessarily mean that the sample is of female origin, because experimental errors can also lead to negative results. Thus, the detection of Y- and X-chromosome specific sequences is advantageous. Results A novel method for sex identification in mammals (sheep, Ovis aries and European red deer, Cervus elaphus) is described, using a polymerase chain reaction (PCR) and sequencing of a part of the amelogenin gene. A partial sequence of the amelogenin gene of sheep and red deer was obtained, which exists on both X and Y chromosomes with a deletion region on the Y chromosome. With a specific pair of primers a DNA fragment of different length between the male and female mammal was amplified. Conclusion PCR amplification using the amelogenin gene primers is useful in sex identification of samples from sheep and red deer and can be applied to DNA analysis of micro samples with small amounts of DNA such as hair roots as well as bones or embryo biopsies.

White Galloway cattle exhibit three different white coat colour phenotypes, that is, well marked, strongly marked and mismarked. However, mating of individuals with the preferred well or strongly marked phenotype also results in offspring with the undesired mismarked and/or even fully black coat colour. To elucidate the genetic background of the coat colour variations in White Galloway cattle, we analysed four coat colour relevant genes: mast/stem cell growth factor receptor ( KIT), KIT ligand ( KITLG), melanocortin 1 receptor ( MC1R) and tyrosinase ( TYR). Here, we show that the coat colour variations in White Galloway cattle and White Park cattle are caused by a KIT gene (chromosome 6) duplication and aberrant insertion on chromosome 29 (Cs29) as recently described for colour-sided Belgian Blue. Homozygous (Cs29/Cs29) White Galloway cattle and White Park cattle exhibit the mismarked phenotype, whereas heterozygous (Cs29/wt29) individuals are either well or strongly marked. In contrast, fully black individuals are characterised by the wild-type chromosome 29. As known for other cattle breeds, mutations in the MC1R gene determine the red colouring. Our data suggest that the white coat colour variations in White Galloway cattle and White Park cattle are caused by a dose-dependent effect based on the ploidy of aberrant insertions and inheritance of the KIT gene on chromosome 29. [ABSTRACT FROM AUTHOR]

ABSTRACT: Pig scrotal/inguinal and umbilical hernias are the most prevalent congenital disorders in pigs and often cause animal welfare problems and economic loss. To identify susceptibility loci for these traits, a genome-wide scan with 194 microsatellite markers coyering the pig genome was performed in a White Duroc x Erhualian resource population with 23 scrotal/ inguinal F2 animals, 50 umbilical F2 animals, and their unaffected siblings. A sex-average linkage map with a total length of 2,350.3 cM and an average marker interval of 12.84 cM was constructed. Both nonparametric genorne-wide linkage (NPL) analysis and transmission disequilibrium test (TDT) were implemented to detect closely linked markers. The NPL analysis revealed 11 chrornosomal regions on SSC1, 2, 3, 6, 7, 8, 10, and 11 for umbilical hernia and 5 regions on SSC2, 4, 8, 13, and 16 for scrotal/inguinal hernia, whereas the TDT test identified susceptibility loci for umbilical hernia on SSC1, 2, 4, 7, 10, 13, 14, and 15 and for scrotal/inguinal hernias on SSC2, 8, 10, and 18. The most promising loci were S WR1928 on SSC7 and S W830 on SSC1O for umbilical hernia, and SW933 on SSC8 for scrotal hernia, which were consistently detected by both NPL and TDT. Several previously reported chrornosomal regions for scrotal/inguinal hernia were confirmed, and new evidence for linkage with this pig defect was found. Moreover, susceptibility loci for pig umbilical hernia were detected for the first time. [ABSTRACT FROM AUTHOR]

Cathepsin L (CTSL) is a lysosomal cysteine protease with potent elastase and collagenase activities. Its high activity in the uterine lumen during the period of placental attachment has led to speculation that CTSL may play an important role during embryonic implantation in the pig. Cathepsins have also been implicated in blastocyst implantation in other species like cat, rat and man. We isolated a PAC clone containing the porcine CTSL gene and determined the complete DNA sequence of the gene, which spans about 5.6 kb and consists of eight exons. The CTSL transcript encodes a primary peptide of 334 amino acids sharing 73–78% identity with other mammalian cathepsin L precursor proteins. Based on fluorescence in situ hybridization and radiation hybrid mapping, the porcine CTSL gene was assigned to chromosome 10q11→ q12. Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Mutations in the gene for gamma-sarcoglycan (SGCG) located on HSA 13q12 are responsible for limb girdle muscular dystrophy (LGMD2C) in human. Here we report the cloning of the canine SGCG gene together with its genomic structure and several intragenic polymorphisms. The coding part of the canine SGCG contains seven exons spanning at least 70 kb of genomic DNA. The chromosome assignment of the canine SGCG gene to CFA 25q21→q23 confirms that the canine syntenic group 10 corresponds to CFA 25 and also supports the findings of human-canine reciprocal chromosome painting. Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The COX7A1 gene encodes a heart- and muscle-specific isoform of the subunit VIIA of cytochrome c oxidase, which is the last component of the mitochondrial electron transfer chain. Cloning and characterization of the porcine COX7A1 gene revealed a highly conserved organization with respect to other mammalian COX7A1 orthologs. The porcine gene consists of four exons spanning approximately 1.5 kb and codes for a peptide of 80 amino acids. The COX7A1 gene showed no variation between pigs from different breeds. The gene was assigned by FISH and RH-mapping to SSC 6q1.1→q1.2 which is in agreement with previously established comparative maps. Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Leukemia inhibitory factor (LIF) is a pleiotropic cytokine involved in early conceptus development in pig. We isolated a PAC clone containing the porcine LIF gene and determined the complete DNA sequence of the gene, which spans about 6.3 kb and consists of five exons including three alternative first exons (1D, 1M, 1T) spliced onto common second and third exons. The LIF-D transcript encodes a protein of 202 amino acids sharing 87, 84, and 78% identity with respectively human, ovine, and murine leukemia inhibitory factors. The LIF-M and LIF-T transcripts both encode a truncated protein of 158 amino acids. Two SNP markers within untranslated regions of the LIF cDNA were identified. One SNP is located in the 5′-UTR of the alternative exon 1T while the other SNP is located in the 3′-UTR of exon 3. Based on fluorescence in situ hybridization and radiation hybrid mapping, the porcine LIF gene was assigned to chromosome 14q2.1→q2.2. Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

This article analyzes the localization of the porcine inter-&b.alpha; trypsin inhibitor heavy chain 4 (ITIH4) gene to SSC1 3q2.1->q2.2 by fluorescence in situ hybridization and radiation hybrid mapping. ITIH4 is a glycoprotein that belongs to the inter-&b.alpha;- trypsin inhibitor family of serine protease inhibitors which act as acute phase reactants after traum. Endometrial gene expression of ITIH4 in pig was detected during oestrus cycle and early pregnancy. Gene expression of ITIH4 is enhanced during the midluteal phase of the oestrus cycle and the period of trophoblast attachment.

This article reports the localization of the porcine HOXA10 gene to chromosome SSC18q23-q24 by FISH and confirm the position by the use of hybrid panels. PCR amplification to generate a probe for screening of a porcine PAC library was done with primers A. FISH was performed. Statistical analysis revealed a significant correlation of 1.0 between the HOXA10 gene and SSC 18. Within SSC18, chromosome region q13 -q21 indicated the highest probability. The most significantly linked marker is S0120 on SSC18.

Examines the genetics of swamp buffaloes. Role of insulin-like growth factors (IGF) in mammals; Identification of a polymorphism withing; Detection of a single nucleotide polymorphism of the amplified fragment.

The article reports that the receptor of the macrophage colony-stimulating factor 1 (CSF1R) belongs to a subfamily of receptor tyrosine kinases. The CSF1R gene is in close vicinity to the PDGFR1 gene which is located only a few hundred basepairs proximal in a head-to-tail orientation. Hampe et al. (1989) demonstrated that the human CSF1R gene consists of 21 small exons interrupted by introns ranging in size from 6.3 to less than 0.1 kb. Mutations in the CSF1R gene have been shown to be causative for a number of hereditary diseases and neoplastic transformations.

Examines the genetic structure and nucleotide polymorphism of the porcine agouti signaling protein gene. Function of agouti signaling proteins in coat color regulation; Association between agouti alleles and obesity; Genomic organization of signaling genes.

Examines highly polymorphic microsatellites between the canine dystroglycan gene1 and partial bassoon genes on chromosome CFA20q15.1-q15.2. Type of mirosatellite allele segregation exhibited by dogs; Correlation between polymorphic information content, allele size and gene frequency.

Sudies two highly polymorphic microsatellites within the porcine ryanodine receptor 3 gene. Primer sequences; Polymerase chain reaction conditions; Chromosomal localization.

Analyzes polymorphisms in the canine protein C gene, a precursor of a plasma vitamin K-dependent serine protease. Polymerase chain reaction conditions and analysis; Primer sequences; Position and allele frequency of polymorphic sites; Mendelian inheritance.