Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle

Sieck, Renae L; Fuller, Anna; Bedwell, Patrick; Ward, Jack A.; Sanders, Stacy; Xiang, Shi-Hua; Peng, Sichong; Petersen, Jessica L; Steffen, David

doi:10.3390/genes11111246

Cited by 12 publications

(10 citation statements)

References 34 publications

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“…Analysis parameters required a minimum of 15 SNPs, maxOpp Run = 1, max MIssRun = 1, maxGap = 10,000,000, minLengthBps = 100,000. Whole-genome sequence data of the stallions and mares were processed and variants called according to the pipeline outlined in Sieck et al ( 2020 ), with the exception of mapping to the EquCab3 reference genome (Burns et al, 2018 ; Sieck et al, 2020 ). Bi-allelic autosomal SNPs were extracted from the resulting vcf for ROH analysis in the same manner as used for the SNP data.…”

Section: Methodsmentioning

confidence: 99%

Generation of a Biobank From Two Adult Thoroughbred Stallions for the Functional Annotation of Animal Genomes Initiative

et al. 2021

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Following the successful creation of a biobank from two adult Thoroughbred mares, this study aimed to recapitulate sample collection in two adult Thoroughbred stallions as part of the Functional Annotation of the Animal Genome (FAANG) initiative. Both stallions underwent thorough physical, lameness, neurologic, and ophthalmic (including electroretinography) examinations prior to humane euthanasia. Epididymal sperm was recovered from both stallions immediately postmortem and cryopreserved. Aseptically collected full thickness skin biopsies were used to isolate, culture and cryopreserve dermal fibroblasts. Serum, plasma, cerebrospinal fluid, urine, and gastrointestinal content from various locations were collected and cryopreserved. Under guidance of a board-certified veterinary anatomic pathologist, 102 representative tissue samples were collected from both horses. Whole tissue samples were flash-frozen and prioritized tissues had nuclei isolated and cryopreserved. Spatially contemporaneous samples of each tissue were submitted for histologic examination. Antemortem and gross pathologic examination revealed mild abnormalities in both stallions. One stallion (ECA_UCD_AH3) had unilateral thoracic limb lameness and bilateral chorioretinal scars. The second stallion (ECA_UCD_AH4) had subtle symmetrical pelvic limb ataxia, symmetrical prostatomegally, and moderate gastrointestinal nematodiasis. DNA from each was whole-genome sequenced and genotyped using the GGP Equine 70K SNP array. The genomic resources and banked biological samples from these animals augments the existing resource available to the equine genomics community. Importantly we may now improve the resolution of tissue-specific gene regulation as affected by sex, as well as add sex-specific tissues and gametes.

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Section: Methodsmentioning

confidence: 99%

Generation of a Biobank From Two Adult Thoroughbred Stallions for the Functional Annotation of Animal Genomes Initiative

et al. 2021

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“…DNA was isolated from ear tissues and blood of the calves, sire's semen, and blood cards using the Gentra Puregene Blood Kit (Qiagen, Venlo, Netherlands) following the protocol described in Sieck et al (2020).…”

Section: Dna Isolationmentioning

confidence: 99%

A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle

Reith,

Beever,

Paschal

et al. 2024

Animal Genetics

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Bovine familial convulsions and ataxia (BFCA) is considered an autosomal dominant syndrome with incomplete penetrance. Nine Angus calves from the same herd were diagnosed with BFCA within days of birth. Necropsy revealed cerebellar and spinal cord lesions associated with the condition. Parentage testing confirmed that all affected calves had a common sire. The sire was then bred to 36 cows across two herds using artificial insemination, producing an additional 14 affected calves. The objective of this investigation was to identify hypothesized dominant genetic variation underlying the condition. Whole‐genome sequencing was performed on the sire, six affected and seven unaffected paternal half‐sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in CACNA1A. The other affected calves (N = 8) were heterozygous for the variant but it was absent in the other unaffected calves (N = 7) and parents of the sire. This variant was also absent in sequence data from over 6500 other cattle obtained via public repositories and collaborator projects. The variant in CACNA1A is expressed in the cerebellum of the ataxic calves as detected in the transcriptome and was not differentially expressed compared with controls. The CACNA1A protein is part of a highly expressed cerebellar calcium voltage gated channel. The nonsense variant is proposed to cause haploinsufficiency, preventing proper transmission of neuronal signals through the channel and resulting in BFCA.

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“…The missense mutation are alteration the codon of nucleotide bases that cause change of amino acid code [16]. In Hereford cattle, the recessive missense mutations impact the catalytic activity of the encoded enzyme [17]. Decreased protein levels or impaired plasma membrane localization may occur due to the impact of missense mutations [18].…”

Section: Snp Identificationsmentioning

confidence: 99%

Preliminary study on local Indonesian sheep MC4R gene as a prospective marker for sustainable high production trait

Adani,

Maharani,

L Sari

et al. 2023

IOP Conf. Ser.: Earth Environ. Sci.

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A prospective genetic marker to archive for sustainable growth traits of local Indonesian sheep is the Melanocortin-4 Receptor (MC4R) gene, which arrange feeding behavior. This study were examined the MC4R gene of Indonesian sheep for polymorphism and restriction enzyme for PCR-RFLP within the partial coding sequence (CDS) and 3’UTR regions. A 642 bp of PCR product was amplified from sixteen blood samples (Sakub: 2, Wonosobo: 3, Sapudi: 3, Garut:3, and Garut-Dorper cross: 2). Sequence alignments between the samples and GenBank (NC_056076) discovered five SNPs (CDS: SNPs 1039A>G and 1068G>C, 3’UTR region: SNPs 1403G>A, 1511C>A and 1526G>C). The SNP 1039A>G was categorized as a missense mutation (Met to Val). However, SNP 1068G>C was a silent mutation (Ala to Ala). The restriction enzyme analysis showed that SNPs 1039A>G and 1403G>A were recognized by BssSI and SfaNI. SNPs 1068G>C, 1511C>A and 1526G>C were not recognized by the enzyme. In conclusion, the MC4R gene of Indonesian has five SNPs discovered, among other two SNPs in CDS and three SNPs in 3’UTR region. BssSI and SfaNI enzymes are eligible for further genotyping of sheep samples using the PCR-RFLP method.

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Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle

Cited by 12 publications

References 34 publications

Generation of a Biobank From Two Adult Thoroughbred Stallions for the Functional Annotation of Animal Genomes Initiative

Generation of a Biobank From Two Adult Thoroughbred Stallions for the Functional Annotation of Animal Genomes Initiative

A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle

Preliminary study on local Indonesian sheep MC4R gene as a prospective marker for sustainable high production trait

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