The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability

Hair length in dogs has been known for many years to be primarily controlled by a limited number of genes, but none of the genes have been identified. One of these genes produces a recessively inherited long-haired phenotype that has been thought to explain the bulk of hair-length variation among many breeds. Sequence analysis of the FGF5 gene in short and long-haired corgis resulted in the identification of two coding region differences: a duplication in a relatively non-conserved region of the gene and a missense mutation, resulting in the substitution of Phe for Cys, in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair, eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds.     

Rendiconti Delle Sedute E Brevi Comunicazioni

Abstract

Totally, 26 xerohalophytic species belonging to the associations Cakilo-Xanthietum italici and Echinophoro-Elymetum farcti were registered at the Velika pla?a beach (Montenegro); they were distributed following the spatial succession common in this type of habitat. Three transects of different terrain morphology (positioned perpendicularly to the shoreline) were surveyed to establish if there were any differences in the floristic composition and species distribution due to the configuration discrepancy. Moreover, each transect was divided into zones: The first zone from 0 to 30 m inland, the second zone from 30 m to 60 m inland, and the third zone from 60 m to the end of beach (75–115 m, depending on transect length). The floristic composition was relatively uniform in the different transects. However, the number of individuals per species differed significantly among these transects. An analysis of the qualitative composition of transects/zones showed high differences between zones within transects I and II, whereas species composition of zones within transect III was mostly similar. When analyzing the quantitative composition of species, a positive correlation between the distance from the shoreline and the number of individuals per species in transects I and II was registered for most analyzed species (Spearman correlation, p < 0.001). This indicates that terrain configuration affected the ability of present species to become established and propagate.     

Within-breed heterozygosity of canine single nucleotide polymorphisms identified by across-breed comparison

Identification of single nucleotide polymorphisms (SNPs) by DNA sequence comparison across breeds is a strategy for developing genetic markers that are useful for many breeds. However, the heterozygosity of SNPs identified in this way might be severely reduced within breeds by inbreeding or genetic drift in the small effective population size of a breed (population subdivision). The effect of inbreeding and population subdivision on heterozygosity of SNPs in dog breeds has never been investigated in a systematic way. We determined the genotypes of dogs from three divergent breeds for SNPs in four canine genes (ACTC, LMNA, SCGB, and TYMS) identified by across-breed DNA sequence comparison, and compared the genotype frequencies to those expected under Hardy-Weinberg equilibrium (HWE). Although population subdivision significantly skewed allele frequencies across breeds for two of the SNPs, the deviations of observed heterozygosities compared with those expected within breeds were minimal. These results indicate that across-breed DNA sequence comparison is a reasonable strategy for identifying SNPs that are useful within many canine breeds.     

The gene for human carbonic anhydrase II (CA2) is located at chromosome 8q22

The gene CA2 for the human carbonic anhydrase II isozyme is encoded in band q22 of chromosome 8. These data and supporting evidence predict that the genes for carbonic anhydrase I and III are also physically closely linked in this chromosomal region.     

Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees.

Wilson disease (WD) is an autosomal recessive disorder resulting in copper accumulation to toxic levels. Patients may present with neurologic, hepatic, or hematologic disease at any age between the first and fifth decade of life. Because of clinical heterogeneity, genetic heterogeneity in the etiology of the disease has been proposed. Recently, linkage of the WD locus to loci on 13q has been demonstrated in five Middle-Eastern kindreds. We have used esterase D and several polymorphic markers on 13q to investigate linkage in WD pedigrees from the United States and Canada. Ten kindreds, three with hepatic and seven with neurologic presentations, were informative, yielding a lod score of 2.189 at a recombination fraction of .06 with probe 7F12 at D13S1. Patients were generally of mixed European background, but one particularly informative pedigree was Hispanic. Our data confirm the provisional assignment of the gene for WD to 13q. More specifically, our findings indicate that, irrespective of ethnic background or clinical presentation, the linkage to 13q will be present in most pedigrees. The relative lack of linkage heterogeneity indicates that closely linked polymorphic loci on 13q can be useful in prenatal and presymptomatic diagnosis and in heterozygote detection.     

Variation in coding exons of two electrophoretic alleles at the pigtail macaque carbonic anhydrase I locus as determined by direct,double-stranded sequencing of polymerase chain reaction (PCR) products

Two, electrophoretically distinct, forms of carbonic anhydrase I (CA Ia and CA Ib) are found at high polymorphic frequencies in red cells of natural populations of pigtail macaques,Macaca nemestrina, from southeast Asia. By use of the polymerase chain reaction, exons of the CA I gene were amplified from homozygous (a/a, b/b) and heterozygous (a/b) animals. Direct sequencing of the amplified DNA from four animals revealed differences between the a and the b electrophoretic alleles ranging from three to six nucleotides, and from one to three differences within each allele. These results indicate a greater genetic variability at the CA I locus in this macaque species than previously realized. We thank the personnel of the University of Washington, Regional Primate Research Center, Seattle, for sending us blood and tissue samples from pigtail macaques (supported by NIH Grant RR 00166). Our work was supported by NIH Grant GM 24681.