The Journal of heredity.
Publisher:
American Genetic Assn.. New York, NY : Oxford University Press For The American Genetic Association
Frequency: Bimonthly
Country: United States
Language: English
Author(s):
American Genetic Association.
Start Year:1914 -
ISSN:
0022-1503 (Print)
1465-7333 (Electronic)
0022-1503 (Linking)
1465-7333 (Electronic)
0022-1503 (Linking)
Impact Factor
3.1
2022
| NLM ID: | 0375373 |
| (DNLM): | J22760000(s) |
| (OCoLC): | 01724935 |
| Coden: | JOHEA8 |
| Classification: | W1 JO67J |
The candidate gene XIRP2 at a quantitative gene locus on equine chromosome 18 associated with osteochondrosis in fetlock and hock joints of South German Coldblood horses. A whole-genome scan for radiological signs of osteochondrosis (OC) and osteochondrosis dissecans (OCD) in South German Coldblood (SGC) horses using 250 microsatellite markers identified a genome-wide significant quantitative trait locus (QTL) for fetlock OCD and a chromosome-wide QTL for hock OC on Equus caballus chromosome (ECA) 18 at a relative position of 45.9-78.2 cM. The aim of this study was to analyze associations of single-nucleotide polymorphisms (SNPs) in candidate genes for OC in this QTL region using 96 SGC horses. The OC-QTL on ECA18 could be confirmed and narrowed down to an inte...
Concerted evolution of vertebrate CCR2 and CCR5 genes and the origin of a recombinant equine CCR5/2 gene. Chemokine receptors (CCRs) play an essential role in the initiation of an innate immune host response. Several of these receptors have been shown to modulate the outcome of viral infections. The recent availability of complete genome sequences from a number of species provides a unique opportunity to analyze the evolution of the CCR genes. A phylogenetic analysis revealed that the CCR2 gene evolved in concert with the paralogous CCR5 gene, but not with another paralogous gene, CCR3, in the opossum, platypus, rabbit, guinea pig, cat, and rodent lineages. In addition, evidence of concerted evolu...
Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed. White markings and spotting patterns in animal species are thought to be a result of the domestication process. They often serve for the identification of individuals but sometimes are accompanied by complex pathological syndromes. In the Swiss Franches-Montagnes horse population, white markings increased vastly in size and occurrence during the past 30 years, although the breeding goal demands a horse with as little depigmented areas as possible. In order to improve selection and avoid more excessive depigmentation on the population level, we estimated population parameters and breeding value...
Associations between candidate gene markers at a quantitative trait locus on equine chromosome 4 responsible for osteochondrosis dissecans in fetlock joints of South German Coldblood horses. A previously accomplished whole-genome scan for osteochondrosis (OC) and OC dissecans (OCD) in South German Coldblood horses using 250 microsatellite markers identified putative quantitative trait loci (QTL). A chromosome-wide significant QTL for fetlock OCD was found on Equus caballus chromosome (ECA) 4q at a relative position of 70.0-73.3 cM. The aim of this study was to analyze associations of single nucleotide polymorphisms (SNPs) in candidate genes for OC in this region. The association analysis included 32 affected and 64 unaffected horses. Three SNPs located in intron 8, intron 9, and 3...
Genetic diversity in a feral horse population from Sable Island, Canada. The present-day Sable Island horse population, inhabiting an island off the eastern coast of Canada, is believed to have originated mainly from horses confiscated from the early French settlers in Nova Scotia in the latter half of the 18th century. In 1960, the Sable Island horses were given legal protected status and no human interference has since been allowed. The objective of this study was to characterize the current genetic diversity in Sable Island horses in comparison to 15 other horse breeds commonly found in Canada and 5 Spanish breeds. A total of 145 alleles from 12 microsatellite l...
Inbreeding and genetic structure in the endangered Sorraia horse breed: implications for its conservation and management. The Sorraia horse is a closed breed with reduced effective population size and considered in critical maintained risk status. The breed exists in 2 main breeding populations, one in Portugal and one in Germany, with a smaller population size. A set of 22 microsatellite loci was used to examine genetic diversity and structure of the Sorraia horse breed and to compare individual inbreeding coefficient F, estimated from pedigree data, with individual heterozygosity and mean d(2). The Sorraia horse shows lower levels of microsatellite diversity when compared with other horse breeds. Due to managem...
Molecular genetic analysis of the ATP2A2 gene as candidate for chronic pastern dermatitis in German draft horses. Chronic pastern dermatitis predominantly affects draft horses, and this condition is characterized by hyperkeratotic-hyperplastic dermal alterations. Chronic pastern dermatitis resembles the acral-hemorrhagic phenotype of Darier-White disease in humans. The ATP2A2 gene has been shown to be responsible for human Darier-White. Thus, we chose ATP2A2 on equine chromosome 8 (ECA8) as candidate for chronic pastern dermatitis in coldblood horses. A linkage analysis was performed in 10 paternal half-sib families consisting of 85 German coldblood horses using a microsatellite closely linked to ATP2A2, ...
Iberian origins of New World horse breeds. Fossil records, archaeological proofs, and historical documents report that horses persisted continuously in the Iberian Peninsula since the Pleistocene and were taken to the American continent (New World) in the 15th century. To investigate the variation within the mitochondrial DNA (mtDNA) control region of Iberian and New World horse breeds, to analyze their relationships, and to test the historical origin of New World horses, a total of 153 samples, representing 30 Iberian and New World breeds, were analyzed by sequencing mtDNA control region fragments. Fifty-four haplotypes were found and...
Genetic diversity within and among four South European native horse breeds based on microsatellite DNA analysis: implications for conservation. In the present study, genetic analyses of diversity and differentiation were performed on four Basque-Navarrese semiferal native horse breeds. In total, 417 animals were genotyped for 12 microsatellite markers. Mean heterozygosity was higher than in other horse breeds, surely as a consequence of management. Although the population size of some of these breeds has declined appreciably in the past century, no genetic bottleneck was detected in any of the breeds, possibly because it was not narrow enough to be detectable. In the phylogenetic tree, the Jaca Navarra breed was very similar to the Po...
The origins of Iberian horses assessed via mitochondrial DNA. Despite a number of recent studies that have focused on the origin of domestic horses, genetic relationships between major geographical clusters still remain poorly understood. In this study we analyzed a 296 bp mtDNA fragment from the HVI region of 171 horses representing 11 native Iberian, Barb, and Exmoor breeds to assess the maternal phylogeography of Iberian horses. The mtDNA haplogroup with a CCG motif (nucleotide position 15,494 to 15,496) was the most frequent in Iberian and Barb breeds (0.42 and 0.57, respectively), regardless of geographic location or group of breeds. This finding su...
Inheritance of guttural pouch tympany in the arabian horse. The objective of the present study was to analyze the mode of inheritance of guttural pouch tympany (GPT) using pedigrees of Arabian horses. Complex segregation analyses were employed to test for the significance of nongenetic transmission and for monogenic, polygenic, and mixed monogenic-polygenic modes of inheritance. Horses affected by GPT comprised 27 Arabian purebred foals. Of these 27 animals, 22 were patients at the Clinic for Horses, School of Veterinary Medicine Hannover, Hannover, Germany, between 1994 and 2001 and 5 Arabian foals were from stud farms. Information on the pedigrees of...
Isolation of Y chromosome-specific microsatellites in the horse and cross-species amplification in the genus Equus. Y chromosome polymorphisms such as microsatellites or single nucleotide polymorphisms represent a paternal counterpart to mitochondrial DNA (mtDNA) for evolutionary and phylogeographic studies. The use of Y chromosome haplotyping in natural populations of species other than humans is still hindered by the lack of sequence information necessary for polymorphism screening. Here we used representational difference analysis (RDA) followed by a screen of a bacterial artificial chromosome (BAC) library for repetitive sequences to obtain polymorphic Y-chromosomal markers. The procedure was performed ...
Microsatellite variation in Japanese and Asian horses and their phylogenetic relationship using a European horse outgroup. The genetic relationships of seven Japanese and four mainland-Asian horse populations, as well as two European horse populations, were estimated using data for 20 microsatellite loci. Mongolian horses showed the highest average heterozygosities (0.75-0.77) in all populations. Phylogenetic analysis showed the existence of three distinct clusters supported by high bootstrap values: the European cluster (Anglo-Arab and thoroughbreds), the Hokkaido-Kiso cluster, and the Mongolian cluster. The relationships of these clusters were consistent with their geographical distributions. Basing our assumpti...
Inbreeding, microsatellite heterozygosity, and morphological traits in Lipizzan horses. While the negative effects of inbreeding and reduced heterozygosity on fecundity and survival are well established, only a few investigations have been carried out concerning their influence on morphological traits. This topic is of particular interest for a small and closed population such as the Lipizzan horse. Thus, 27 morphological traits were measured in 360 Lipizzan mares and were regressed on the individual inbreeding coefficients, as well as on the individual heterozygosity and mean squared distances (mean d(2)) between microsatellite alleles within an individual. Both individual heter...
The horse homolog of congenital aniridia conforms to codominant inheritance. Anterior segment dysgenesis syndrome occurs frequently in Rocky Mountain horses and has two distinct ocular phenotypes: (1) large cysts originating from the temporal ciliary body or peripheral retina and (2) multiple anterior segment anomalies including ciliary cysts, iris hypoplasia, iridocorneal adhesions and opacification, nuclear cataract, and megalocornea. To determine if anterior segment dysgenesis syndrome is heritable in horses we performed ophthalmic examinations and collected pedigree information on horses (n = 516) in an extended Rocky Mountain horse pedigree. Logistic regressive se...
Tobiano spotting pattern in horses: linkage of To with AlA and linkage disequilibrium. In a study of 2,786 tobiano and non-tobiano horses involved in paint horse breeding programs throughout the United States, the inheritance of the tobiano color pattern gene was tracked in pedigrees using the tightly linked polymorphic albumin gene. The dominant tobiano allele (T(o)), which produces the tobiano spotting pattern in horses, was in coupling with both AIA and AIB alleles at the albumin locus. The frequency of the T(o):AIA linkage phase among all the homozygous tobiano horses in this study including offspring and parents (N = 127), was 0.08. The T(o):AIB linkage phase was the most f...
An introduction to mammalian interspecific hybrids. Haldane's law states that in interspecific hybrids, it is the heterogametic sex that is likely to be absent, rare, or sterile. In mammals, there is increasing evidence to suggest that this may be due to the high mutation rate of male sex-determining genes on the Y chromosome. The mule, humanity's first successful attempt at genetic engineering, provides some support for this concept. Interspecific hybrids may also shed new light on the importance of the maternal transmission of mitochondrial DNA and the phenomenon of genomic imprinting.
Interspecific and extraspecific pregnancies in equids: anything goes. Equids possess the unusual ability to interbreed freely among the phenotypically and karyotypically diverse member species of the genus to produce viable, but usually infertile, offspring. The mule (female horse x male donkey) was humanity's first successful attempt at genetic engineering and its clear expression of both parental phenotypes has contributed much to our understanding of genetic inheritance over the centuries. Even more surprising, mares and donkeys have been shown to be capable of carrying to term a range of true, xenogeneic extraspecies pregnancies created by embryo transfer, i...
Localization of the U2 linkage group of horses to ECA 3 using chromosome painting. The U2 linkage group of horses includes the genes albumin (ALB), vitamin D binding protein (GC), mitochondrial glutamate oxaloacetate transaminase 2 (GOT2), and haptoglobin (HP) which are found on two human chromosomes, namely, 4 (HSA 4) and 16 (HSA 16). Likewise these genes are also found on two different chromosomes in mice, rats, and cattle. Chromosome painting demonstrated that only horse chromosome 3 (ECA 3) hybridized with whole chromosome paints for both HSA 4 and HSA 16. This indicated that the equine U2 linkage group occurs on ECA 3, spanning the centromere. This technique will be use...
Influence of stochastic events on the phenotypic variation of common white leg markings in the Arabian horse: implications for various genetic disorders in humans. One method of assessing the influence of stochastic events on phenotypic variation is to study morphological differences in paired limbs of the same individual. These limbs have identical genotypes and similar intra-uterine environments and are analogous to monozygotic twins. Common white leg markings have a multifactorial mode of inheritance in the Arabian horse. Asymmetry occurs frequently for these markings. Using computerized registration records obtained from the Arabian Horse Registry of America, Inc., the types of markings were quantified in the left foreleg and left hind leg of bay and...
Dominant inheritance of overo spotting in paint horses. Analysis of selected studbook records of the American Paint Horse Association, consisting of 687 foals sired by 13 overo stallions from non-overo mares, supports the inheritance of overo spotting as an autosomal dominant gene. More than one gene may control patterns registered as overo. Additional studies are necessary to explain the sporadic occurrence of overo spotting from nonspotted quarter horse parents and to confirm the inheritance of overo spotting in other breeds.
Genomic distribution of heterochromatic sequences in equids: implications to rapid chromosomal evolution. We describe a molecular model for rapid chromosomal evolution that proposes tandemly repeated DNA sequences as a driving force. A prediction of this model is that when extensive rearrangements of euchromatin have been facilitated by heterochromatin, genomes will be characterized by tandemly repeated sequences that have actively changed chromosomal fields by intragenomic movement. Alternatively, it is proposed that in conservative chromosomal lineage each class of tandemly repeated sequences will be restricted to a specific chromosomal field. To provide baseline data to test this model we exami...
Common white facial markings in bay and chestnut Arabian horses and their hybrids. Common white facial and leg markings have a multifactorial mode of inheritance in Equus caballus. Evidence for the complexity of the genetic component is the observation that chestnut (e/e) horses have more extensive white markings than do bay (E/-) horses. Computerized records obtained from the Arabian Horse Registry of America, Inc., were used to determine if heterozygous (E/e) bay horses have more extensive white facial markings than do homozygous (E/E) bay horses. Thirty-five sire families were analyzed. Each sire family consists of a sire, his foals, and the dams of those foals. The facia...
The inheritance of the leopard complex of spotting patterns in horses. The leopard complex of white spotting patterns in horses consists of the leopard, few-spot leopard, blanket, blanket with spots, varnish roan (or marble), snowflake, frosted, speckled, and mottled patterns. Horses with any of these patterns can produce the other patterns when mated to nonpatterned horses. Twenty-two horses of the Welsh Pony, Noriker, Appaloosa, and Pony of the Americas breeds produced 270 foals in a distribution consistent with a single dominant allele being responsible for the patterns. The symbol for this dominant allele, Lp, is retained from previous work on the leopard pat...
Multifactorial inheritance of common white markings in the Arabian horse. The results of a previous study were compatible with the hypothesis that common white facial markings in the Arabian horse have a multifactorial mode of inheritance. I expanded that study to (1) include the legs and therefore obtain insight into the heritability of common white markings in all peripheral regions (face and legs) of the Arabian horse and (2) investigate the influence of sex and the genotypes that produce the bay and chestnut phenotypes on the variation in common white markings. Both studies were based on computerized data obtained from the Arabian Horse Registry of America, Inc....
Multifactorial inheritance of white facial markings in the Arabian horse. The hypothesis was tested that white facial markings in the Arabian horse show multifactorial inheritance. The hypothesis assumes that (1) alleles at different loci acting in a cumulative manner influence the variation in white facial markings, (2) the amount of whiteness is correlated with the number of genes, and (3) interacting nongenetic factors influence the variation. The study was based on computerized data obtained from the Arabian Horse Registry of America, Inc. The facial region was divided into five areas, and each horse was given a score according to the number of areas with a whit...
Y chromosome length variation and its significance in the horse. The results of Y chromosome measurements in 31 horses are presented. The Y chromosome was identified using G-, R-, and C-banding techniques. From G-banded metaphase spreads, total X and Y chromosome and separate proximal (P) and distal (D) Y-band measurements were made. Within this group, the Y/X ratio (%) for each animal varied from 18.93 to 43.95, with an overall mean of 34.85 and a coefficient of variation (CV) of 16.12. The overall mean P/X ratio (%) was 23.57 with a CV of 20.57, compared with an overall mean D/X ratio (%) of 11.26 with a CV of 15.18. The group studied included 27 Thorough...
Evidence for eumelanin and pheomelanin producing genotypes in the Arabian horse. The ultrastructural imaging of melanocytes coupled with analyses to detect sulfur-containing melanosomes by energy-dispersive X-ray spectroscopy were used to test the hypothesis that the yellowish-red and black pigments found in Arabian horses result from pheomelanogenesis and eumelanogenesis, respectively. These procedures detected pheomelanosomes in follicles at the base of hairs in chestnut horses and eumelanosomes in follicles at the base of hairs in black horses. By analyzing tissue obtained by skin biopsy, these procedures also demonstrated that skin melanocytes in a chestnut horse produ...
Equine linkage group II: phase conservation of To with AlB and GcS. Blood type analysis of 29 foals in a paternal half-sib family verified linkage of five LGII loci (Es, E, To, Gc, Al). Population and parentage data from other tobiano-spotted horses suggested conservation of a tightly linked (To:GcS:AlB) marker complex.