Inherited Disorders in Danish Cattle

Agerholm, Jørgen Steen

doi:10.1111/j.1600-0463.2007.apmv115s122.x

Cited by 16 publications

(18 citation statements)

References 160 publications

(176 reference statements)

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“…A case of hypotrichosis and oligodontia in a purebred Danish Red Holstein bull calf (case ID 1388) was reported to the Danish Bovine Genetic Disease Programme (Agerholm 2007) in 2008. The breeder suspected an inherited disease, as the damÕs grandmother had given birth to a similar bull calf (ID 1051) in 2000 (photograph documented; slaughtered at the age of 11 months).…”

Section: Animal Materialsmentioning

confidence: 99%

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Karlskov-Mortensen¹,

Cirera²,

Nielsen³

et al. 2011

Animal Genetics

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A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been reported to cause XHED. In this study, we analysed different EDA transcript variants in affected and unaffected cattle and identified a new transcript variant including a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.

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Section: Animal Materialsmentioning

confidence: 99%

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Karlskov-Mortensen¹,

Cirera²,

Nielsen³

et al. 2011

Animal Genetics

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“…In recent years, implementation of dedicated observatories in different countries (such as in Denmark [8] and in France [9]), and use of homozygosity mapping based on high density SNP genotyping data [10], [11] have proven very efficient tools enabling the detection of novel genetic defects and identification of associated mutations in a very short period of time with a limited number of cases. However, this process rely on the observation of clinical cases (i.e.…”

Section: Introductionmentioning

confidence: 99%

Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

et al. 2013

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The regular decrease of female fertility over time is a major concern in modern dairy cattle industry. Only half of this decrease is explained by indirect response to selection on milk production, suggesting the existence of other factors such as embryonic lethal genetic defects. Genomic regions harboring recessive deleterious mutations were detected in three dairy cattle breeds by identifying frequent haplotypes (>1%) showing a deficit in homozygotes among Illumina Bovine 50k Beadchip haplotyping data from the French genomic selection database (47,878 Holstein, 16,833 Montbéliarde, and 11,466 Normande animals). Thirty-four candidate haplotypes (p<10−4) including previously reported regions associated with Brachyspina, CVM, HH1, and HH3 in Holstein breed were identified. Haplotype length varied from 1 to 4.8 Mb and frequencies from 1.7 up to 9%. A significant negative effect on calving rate, consistent in heifers and in lactating cows, was observed for 9 of these haplotypes in matings between carrier bulls and daughters of carrier sires, confirming their association with embryonic lethal mutations. Eight regions were further investigated using whole genome sequencing data from heterozygous bull carriers and control animals (45 animals in total). Six strong candidate causative mutations including polymorphisms previously reported in FANCI (Brachyspina), SLC35A3 (CVM), APAF1 (HH1) and three novel mutations with very damaging effect on the protein structure, according to SIFT and Polyphen-2, were detected in GART, SHBG and SLC37A2 genes. In conclusion, this study reveals a yet hidden consequence of the important inbreeding rate observed in intensively selected and specialized cattle breeds. Counter-selection of these mutations and management of matings will have positive consequences on female fertility in dairy cattle.

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“…Research on non‐human mammalian species other than cattle remains relatively sparse considering that syndactyly has been described as the most common congenital anomaly of the extremities in many animals (Thompson, : 42–43). Most studies on fauna have been concerned with cattle (Sultan and Bhattacharya, ; Eldridge et al ., ; Motohashi, ; Roy, ; Farmer and Huston, ; Huston et al ., ; Grüneberg and Huston, ; Adrian et al ., ; Leipold et al ., ; Ojo et al ., ; Baker et al ., ; Johnson et al ., ; Barr, ; Leipold and Peeples, ; Taura et al ., ; Hart‐Elcock et al ., ; Bargai et al ., ; Bähr et al ., ; Drögemüller and Distl, ; Agerholm, ), although Wiesner (: 88) stated that pigs are the most commonly affected domestic animals. Other taxa for which syndactyly has been described include sheep (Dennis and Leipold, ), white tailed deer (Rollor, ), dogs (Leipold and Guffy, ; Dallman and Brown, ; Renoy and Balligand, ), foxes (Harris, ), cats (Hays, ; Crummy, ; Towle et al ., ), rabbits (Fujimoto et al ., ), rats (Warkany and Nelson, ), mice (Kadam, ; Center, ; Stewart and Stewart, ), seals (Struthers, : 109), primates (Lapin and Yakoleva, ; Primack et al ., ; French, ; Rothschild and Woods, ;), wallabies (Lyne, ), domestic fowl (Jaap, ; Warren, ; Hollander and Brumbaugh, ) and frogs (Lynch, ).…”

Section: Other Taxamentioning

confidence: 99%

“…Research on non-human mammalian species other than cattle remains relatively sparse considering that syndactyly has been described as the most common congenital anomaly of the extremities in many animals (Thompson, 2007: 42-43). Most studies on fauna have been concerned with cattle (Sultan and Bhattacharya, 1949;Eldridge et al, 1951;Motohashi, 1954;Roy, 1959;Farmer and Huston, 1961;Huston et al, 1961Huston et al, , 1969Grüneberg and Huston, 1968;Adrian et al, 1969;Leipold et al, 1969aLeipold et al, , 1969bLeipold et al, , 1974397 Syndactyly in Pigs: Previous Research and New Analysis Ojo et al, 1975;Johnson et al, 1980;Barr, 1981;Leipold and Peeples, 1981;Taura et al, 1985;Hart-Elcock et al, 1987;Bargai et al, 1989;Bähr et al, 2004;Drögemüller and Distl, 2006;Agerholm, 2007), although Wiesner (1960: 88) stated that pigs are the most commonly affected domestic animals. Other taxa for which syndactyly has been described include sheep (Dennis and Leipold, 1970), white tailed deer (Rollor, 1993), dogs (Leipold and Guffy, 1973;Dallman and Brown, 1980;Renoy and Balligand, 1991), foxes (Harris, 1975), cats (Hays, 1917;Crummy, 1941;Towle et al, 2007), rabbits (Fujimoto et al, 1958), rats (Warkany and Nelson, 1942), mice…”

Section: Other Taxamentioning

confidence: 99%

Syndactyly in Pigs: A Review of Previous Research and the Presentation of Eight Archaeological Specimens

Madgwick

Forest

Beglane

2011

Intl J of Osteoarchaeology

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This paper reviews evidence for the rare condition of porcine syndactyly. It describes eight archaeological examples from Britain, Northern Ireland and France. Syndactyly refers to the partial or complete fusion of two or more adjacent phalanges on the medio-lateral border. The degree and character of fusion are variable, but phalanges frequently unite to create a single skeletal element. This condition has been identified by veterinarians, zoologists and naturalists in individuals and populations in a range of species, but in spite of substantial research on the condition in humans and to a lesser extent cattle, it remains relatively poorly understood in other mammals. Syndactyly is generally agreed to be primarily congenital in origin, although factors affecting its incidence remain far from fully understood. In light of the general paucity of discussion of specific conditions of animal palaeopathology, this paper presents an analysis of these newly discovered syndactyle pig specimens, offers a review of research with particular reference to pigs and discusses the etiology of the condition.

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Inherited Disorders in Danish Cattle

Cited by 16 publications

References 160 publications

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

Syndactyly in Pigs: A Review of Previous Research and the Presentation of Eight Archaeological Specimens

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