SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.

Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis.

Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.

Constitutional ring chromosomes can be found for all human chromosomes and are very rare chromosomal abnormalities. A complete ring chromosome without loss of genetic material results from fusion of subtelomeric regions or telomere-telomere fusion. In cases of complete ring chromosome, an increased incidence of severe growth failure with no or only minor anomalies has been observed and attributed to ring syndrome.

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.

Disorders of sex development (DSD) affect the development of chromosomal, gonadal and/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming to correlate the genetic findings with the phenotype. Blood and tissue samples from a male patient with penoscrotal hypospadias were analyzed by immunohistochemistry, karyotyping and FISH.

Phenotypic spectrum associated with CASK loss-of-function mutations.

Background: Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia.

Methods: The study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and/or quantitative real-time PCR.

Comparison of sample collection methods for the PCR detection of oral anaerobic pathogens.

Aims: To provide evidence that DNA-PCR diagnostics of oral pathogens based on standard sample collection by paper point insertion from the depth of the periodontal pocket can be replaced by a novel non-invasive collection method based on swab technique from the gingiva.

Methods And Results: In this study we compared the results from two collection methods performed in 35 patients with chronic adult periodontitis. Statistical analysis showed a highly significant association of diagnostic results between both collection techniques.

Molecular analysis of the porcine proteolipid protein (PLP) gene.

The proteolipid protein (PLP) gene codes for the most abundant protein in the central nervous system (CNS) myelin of higher vertebrates. Its function in the myelin sheath is not clear however, a series of point mutations have been shown to have devastating effects on the myelin. The structure of the PLP genes is highly conserved, comprising seven exons that code for an open reading frame of 277 amino acids.

Construction and characterization of a porcine P1-derived artificial chromosome (PAC) library covering 3.2 genome equivalents and cytogenetical assignment of six type I and type II loci.

A porcine P1-derived artificial chromosome (PAC) library of a male German Landrace pig was constructed in pCYPAC2. In total 90,240 clones were generated and individually transferred into microtiter plates. An average insert size of 119.

The adipocyte fatty acid-binding protein locus: characterization and association with intramuscular fat content in pigs.

The porcine A-FABP gene (FABP4) was isolated and sequenced to study the role of A-FABP in the differentiation of intramuscular fat (IMF) accretion in pigs. The coding sequence of the porcine A-FABP gene is highly conserved across human, mouse, and rat. Moreover, all the functionally important amino acids are conserved.

Genetic variation in the porcine myogenin gene locus.

The myogenin (MYOG) gene fulfills a key function in muscle differentiation by controlling the onset of myoblast fusion and the establishment of myofibers. In meat-producing animals like pigs and cattle, myofiber numbers have been related to growth capacity. We have characterized the porcine MYOG gene to detect genetic variation at this locus and to relate it to growth characteristics.

Characterization, chromosomal localization, and genetic variation of the porcine heart fatty acid-binding protein gene.

The purpose of this study was to detect genetic variation in the porcine H-FABP gene, a candidate gene for meat quality traits in pigs. Lambda phages containing the porcine H-FABP gene were isolated by plaque hybridization with human H-FABP cDNA. The coding and flanking intronic sequences of the porcine H-FABP gene were determined as well as 1.

Assignment of the porcine loci for MYOD1 to chromosome 2 and MYF5 to chromosome 5.

Porcine-specific polymerase chain reaction (PCR) and a pig-rodent somatic cell hybrid panel were used to map two members of the MyoD gene family. MYOD1 was assigned to pig chromosome 2 and MYF5 to chromosome 5.

ZOO-FISH analysis with 7 human chromosome specific libraries detects conserved regions between human and camel (Camelus dromedarius).

Chromosomal homologies between individual human chromosomes and the camel karyotype have been established by using heterologous chromosome painting experiments called ZOO-FISH. Biotin-labelled DNA libraries from seven flow-sorted human chromosomes were used as probes for fluorescence in situ hybridization (FISH) on camel chromosomes. Human DNA libraries 3, 4, 13, 14, 15, 19 and 21 hybridized to camel chromosomes 2, 6, 7, 21, 25, 32 and 33, were used in identifying and delineating 10 segments of homology.

Partial characterization of porcine obesity gene (OBS) and its localization to chromosome 18 by somatic cell hybrids.

Degenerate primers based on human and mouse obesity gene (OBS) sequencing data were used in the reverse transcriptase-polymerase chain reaction (RT-PCR) of total RNA from pig white adipose tissue. Both strands of the resultant pig- specific 325 bp DNA fragment were sequenced. Comparison of the obtained sequence with known sequences revealed an 86% identity with the human and 84% identity with the mouse OBS cDNA.

Assignment of 19 porcine type I loci by somatic cell hybrid analysis detects new regions of conserved synteny between human and pig.

Nineteen so-called type I-loci, including ACO2, ADRA2, CAST, CCK, CHAT, IGKC, IGLV, IL4, IL6, INHA, LIF, MX1, PTH, RBP2, TCRA, TCRB, TGFB2, TGFB3, and UOX have been mapped in the pig with an informative somatic cell hybrid panel. By analyzing these new assignments in the knowledge of heterologous chromosome painting (Zoo-FISH) data for the porcine genome, it is possible to predict subchromosomal locations for most of these loci. Previously defined regions of conserved synteny were confirmed, and the extent of six of these regions was refined.

The porcine gene TBP10 encodes a protein homologous to the human tat-binding protein/26S protease subunit family.

We have cloned a porcine gene, designated TBP1O, that belongs to the Tat-binding protein/26S protease subunit family. The genomic structure of the porcine TBP1O gene was analyzed after isolation of three overlapping genomic phage lambda clones. The TBP10 gene harbors 12 exons spanning 4.

Mapping of the porcine urate oxidase and transforming growth factor beta 2 genes by fluorescence in situ hybridization.

We have mapped two genes from human chromosome 1, urate oxidase (UOX) and transforming growth factor beta 2 (TGFB2), by fluorescence in situ hybridization (FISH) in the pig genome. Porcine-specific polymerase chain reaction (PCR) primers for both genes were designed from the porcine cDNA sequence. With the help of these primers yeast artificial chromosome (YAC) clones for UOX and TGFB2 were isolated from a pig YAC library.

Mapping of type I loci from human chromosome 7 reveals segments of conserved synteny on pig chromosomes 3, 9, and 18.

We have mapped in the pig (Sus scrofa) the genes for zona pellucida glycoprotein 3 (ZP3), erythropoietin (EPO), and malate dehydrogenase 2 (MDH2) by somatic cell hybrid analysis in the pig genome. Previously, the gene for the T-cell receptor beta cluster (TCRB) was assigned to SSC 18 and that for interleukin 6 (IL6) to SSC 9. However, statistical analysis of mapping data for ZP3, EPO, and MDH2 did not discriminate between SSC 9 and SSC 3.

ZOO-FISH analysis: cat and human karyotypes closely resemble the putative ancestral mammalian karyotype.

DNA in situ hybridization with human chromosome specific DNA libraries was applied to compare the karyotypes of humans (Homo sapiens, 2n = 46) and cats (Felis catus, 2n = 38). For the autosomes alone, 30 segments of conserved synteny were revealed. The arrangement of these segments in the feline karyotype differs by only seven single chromosome breaks and one intrachromosomal inversion from their arrangement in humans.

Mapping of murine YACs containing the genes Cea2 and Cea4 after B1-PCR amplification and FISH-analysis.

PCR with primers specific for the murine B1 consensus sequence allows amplification of DNA from murine sources. We have used B1-PCR for amplifying yeast artificial chromosome (YAC) DNA which can be used to localize single YACs by fluorescence in situ hybridization. The genes for the pregnancy-specific glycoproteins Cea2 and Cea4, both belonging to the large carcinoembryonic antigen gene family, were localized by chromosomal in situ suppression hybridization of three YAC clones to murine chromosome 7A2-A3.

Chromosomal assignment of seventeen porcine microsatellites and genes by use of a somatic cell hybrid mapping panel.

Swine-specific sequence tagged (microsatellite) sites, STS and STMS, were assigned chromosomally by polymerase chain reaction analysis of a somatic cell hybrid panel. This study confirms the localization from genetic mapping of seven anonymous microsatellites and the genes ANPEP, ATP2, CGA, DAGK, FSHB, IFNG, IGF1, IL1B and SPP1. New assignment for the gene BNP1 to chromosome 6 is reported.

Visualization of the conservation of synteny between humans and pigs by heterologous chromosomal painting.

By comparative gene mapping, extended conservation of synteny between different mammalian species has become apparent. Mapping in these species could be accelerated by exact visualization of the chromosomal segments that exhibit conserved synteny. We have hybridized human chromosome-specific DNA libraries onto porcine metaphase spreads to examine the extent of conservation of synteny between the two species.