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Biomedical subjects

D F Patterson

Publications and source records attributed to D F Patterson.

At least 127 records · Page 7Linked to original sources
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Frequency and inheritance of A and B blood types in feline breeds of the United States.

Using a simple hemagglutination assay to determine A and B blood types, we surveyed 1,072 domestic short- and longhair (DSH/DLH) cats and 1,100 purebred cats in the United States. Data from 234 matings with 552 offspring were consistent with the hypothesis that feline blood types A and B are due to the action of two different alleles at the same gene locus and that A is completely dominant over B. Neither an AB nor an O type cat was encountered. No type B cats were found in the Siamese and related breeds or in American Shorthair and Norwegian Forest cats. Among the breeds with type B blood, the proportion was lowest in DSH/DLH cats (0.0028) and variably higher in Abyssinian, Birman, British Shorthair, Devon Rex, Himalayan, Persian, Scottish Fold, and Somali, ranging from 0.15 to 0.59. Since all type B cats have strong, naturally occurring anti-A alloantibodies, fatal neonatal isoerythrolyses occur in type A offspring of type B mothers bred to type A males. The gene frequency of the B allele and the proportion of mating at risk of neonatal isoerythrolysis were estimated in a number of breeds. In most breeds, the frequency of the B allele was less than 0.5. Since the kittens at risk for neonatal isoerythrolysis always have the genotype AB, there is constant natural selection against heterozygotes. Heterozygote disadvantage in the cat AB system represents an unusual form of negative selection, similar to that in Rh blood group incompatibility in humans.

Alleles↗
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Globoid cell leukodystrophy in cairn and West Highland white terriers.

Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder resulting from the defective lysosomal hydrolysis of specific galactolipids found primarily in myelin. This leads to severe neurological symptoms including seizures, hypotonia, blindness, and death, usually before 2 years of age in human patients. In addition to human patients, several animals, including dog, mouse, and monkey, have the same disease caused by a deficiency of galactocerebrosidase (GALC) activity. In this article we describe studies in cairn and West Highland white terriers (WHWT) affected with GLD. Through a screening test based on the molecular defect found in these breeds, over 50 cairn terrier carriers have been identified and a colony of five carrier dogs has been established. Affected dogs from this colony plus an affected WHWT were available for study. An affected WHWT was evaluated by magnetic resonance imaging at 6 and 11 months of age and pronounced changes in the T-2 weighted fast spin-echo images were found. Biochemical and pathological evaluation of the same dog after euthanasia at 12 months of age showed a large accumulation of psychosine in the brain and white matter filled with globoid cells. Some comparisons were made to younger affected and carrier dogs. Studies have shown successful transduction of cultured skin fibroblasts from an affected dog and normal canine bone marrow using a retroviral vector containing the human GALC cDNA. Successful treatment of this canine model will lead to studies in some humans with GLD.

Animals↗
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A comparative approach to physical and linkage mapping of genes on canine chromosomes using gene-associated simple sequence repeat polymorphisms illustrated by studies of dog chromosome 9.

We describe and illustrate a comparative approach to creating physical and linkage maps of genes on dog chromosomes. The approach is particularly useful in species, like the dog, which have a rudimentary gene map not integrated with microsatellite loci. Human or mouse cDNAs for genes to be mapped are used to isolate cosmid or phage clones from dog genomic libraries. Clones verified to contain the homologous canine gene coding sequences are screened for "gene-associated" simple sequence repeat polymorphisms (SSRPs). The unique sequences flanking the repeats are used to design PCR primers to amplify the repeat and gene-associated SSR length differences that are informative for linkage analysis used in canine pedigrees to study linkage between loci or with diseases. The same canine clones are employed as probes in fluorescence in situ hybridization (FISH) studies to physically map the loci to specific sites on dog chromosomes. This approach creates a combined gene and gene-associated microsatellite anchor locus framework map. In this article we review our recent use of this approach to map a series of genes found on human chromosome 17 (HSA17) to two dog chromosomes. Canine chromosome 9 (CFA9) contains 11 loci found on HSA17q, while two genes from HSA17p map to CFA5, demonstrating disruption of HSA17 synteny at the centromere. The order of 11 HSA17q genes on CFA9 was conserved in the dog, but the entire group is inverted with respect to the centromere when compared to human and mouse. Maps created by this approach can be used to advantage for integrating anonymous microsatellites with gene maps, including microsatellites found in genome scans to be linked to canine diseases. This makes it possible to identify the homologous chromosomal region in the human or mouse genome and to make use of this information in formulating hypotheses regarding candidate genes, as has recently been illustrated by other investigators.

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Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects.

Conotruncal defects (CTDs) of the heart are a frequent component of DiGeorge, velocardiofacial, or other syndromes caused by deletions of the human chromosome 22q11 region (HSA22q11). In addition, some human patients with isolated nonsyndromic CTDs have been reported to have deletions of this region. Taken together, these findings lead to the conclusion that deletions of an HSA22q11 locus or loci produce abnormalities in cardiac development leading to CTDs. A spontaneous model of isolated inherited conotruncal malformations occurs in the keeshond dog. We have previously shown in experimental matings that nonsyndromic CTDs in the keeshond are inherited in a manner consistent with a major underlying locus. In the studies described in this article we tested two hypotheses: (1) the region of HSA22q11 commonly deleted in DiGeorge and related syndromes is evolutionarily conserved in the dog, and (2) a locus in this region is linked to hereditary CTD in the keeshond. Two loci within the minimal DiGeorge critical region (MDGCR) and two loci that lie telomeric to the MDGCR, one of which is commonly deleted in DiGeorge patients, were mapped in the dog using a combination of linkage analysis and fluorescence in situ hybridization (FISH). The results confirm conserved synteny of the loci DGS-I, CTP, D22S788 (N41), and IGLC on the telomeric end of canine chromosome 26 (CFA26). The group of four syntenic gene loci, which spans a genetic distance of 2.5 cM is the first to be mapped to this small acrocentric canine chromosome and adds gene-associated polymorphic markers to the developing dog linkage map. Linkage of loci in this region to hereditary CTD in the keeshond was excluded.

Animals↗
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X-linked ectodermal dysplasia in the dog.

A male German shepherd pup had symmetrical areas of hairlessness as well as missing and misshapen teeth. There was no family history of a similar phenotype. In biopsies of the hairless skin and foot pads there were no hair follicles, adnexal structures, or eccrine glands. These findings resemble those in ectodermal dysplasia in the Tabby mouse and anhidrotic/hypohidrotic ectodermal dysplasia (HED) in man, which are both X-linked recessive disorders and thought to be homologous gene defects. While similar cases of ectodermal dysplasia have been reported in the dog and some genetic studies carried out, definitive confirmation of X-linked inheritance of canine ectodermal dysplasia is lacking. Family studies and experimental matings using the propositus gave results that confirm X-linked recessive inheritance. On statistical grounds, it is concluded that ED in the propositus is due to a new mutation. A colony of dogs with this mutation is maintained for further study.

Animals↗
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Chromosomal mapping of beta-globin and albino loci in the domestic cat. A conserved mammalian chromosome group.

Siamese cats are homozygous for the recessive cs allele of the color (albino) locus. The c locus is shown here by backcross analysis to be linked to the beta-hemoglobin (HBB) locus in the cat at a distance of approximately eight centiMorgans. The HBB locus and, by inference, the c locus were assigned to feline chromosome D1, by analysis of genomic DNAs from a panel of rodent X cat somatic cell hybrids with a molecular clone of the human beta-globin locus. Evolutionary conservation of the synthetic homology of feline chromosome D1 and human chromosome 11 is extensive. Comparison of high resolution G-trypsin-banded preparations of the two chromosomes permitted cytological alignment of the long arm of the conserved chromosomes providing that a minimum of one paracentric inversion is hypothesized. The placement of the albino locus on conserved syntenic groups of several markers (HBB, HRAS, LDHA) in both cat and mouse strongly indicates the conservative placement of the as yet unmapped human albino locus in the homologous syntenic group on human chromosome 11p.

Albinism↗
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Canine muscular dystrophy: confirmation of X-linked inheritance.

The genetic basis of muscular dystrophy in golden retriever dogs was investigated by means of experimental matings and cytogenetic studies. An affected male golden retriever was mated to three normal females, producing an F1 generation of six males and 14 females, all of which were clinically normal. Of six F1 females retained for breeding, all were shown to be carriers of muscular dystrophy in outcrosses to unrelated normal male dogs or in backcrosses to the affected male golden retriever. In outcrosses of carrier females, three of seven male and none of nine female offspring were affected, as expected under the X-linked recessive hypothesis. Backcrosses of F1 females to their affected sire also yielded results that are consistent with this hypothesis: 15 of 32 males and 5 of 17 females had muscular dystrophy. Cytogenetic studies of a carrier female, an affected male offspring, and a normal male sibling revealed no detectable abnormalities of the X chromosome.

Animals↗
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Cerebellar Purkinje's cell degeneration and coat color dilution in a family of Rhodesian Ridgeback dogs.

A syndrome of cerebellar Purkinje's cell degeneration and coat color dilution was diagnosed in a family of Rhodesian Ridgeback dogs. One male and 1 female from the same litter and 1 female from a different litter were evaluated for growth retardation, inability to ambulate, and progressive ataxia. On physical examination, lateral recumbency, severe ataxia, tremors, and diluted coat color were identified. Littermates with nondiluted coat color were neurologically normal. Results of routine laboratory tests, urine metabolic screenings, and karyotype analyses were normal. Histopathologic abnormalities at necropsy included cerebellar Purkinje's cell degeneration, reduced granular cell layer thickness, and uneven distribution of macromelanosomes within hair shafts. Pedigree analysis suggested an autosomal recessive mode of inheritance. This is the first description of a genetic syndrome affecting the central nervous system and associated with coat color dilution in dogs.

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Sry-negative XX sex reversal in a family of Norwegian Elkhounds.

Two related female Norwegian Elkhounds were evaluated at 6 and 8 months of age for enlarged clitori. Both had a 78 XX karyotype. Histology of their internal reproductive tracts demonstrated 1 to be an XX true hermaphrodite with bilateral ovotestes and the other to be an XX male with bilateral aspermatogenic testes. Polymerase chain reaction-based tests of genomic DNA showed that both dogs lacked Sry, the testis-determining gene. Pedigree analysis was consistent with an autosomal recessive mode of inheritance, as has been reported in the American Cocker Spaniel and the German Shorthaired Pointer. This is the 1st reported case of familial Sry-negative XX sex reversal in the Norwegian Elkhound. A summary of 34 previously unreported cases of dogs with masculinized external genitalia and a normal 78 XX karyotype seen from 1980 to 1997 is given.

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