scholarly journals Lethal and semi-lethal mutations in Holstein calves in Uruguay

2021 ◽  
Vol 51 (7) ◽  
Author(s):  
Carolina Briano-Rodriguez ◽  
Agustín Romero ◽  
Silvia Llambí ◽  
Andrea Branda Sica ◽  
María Teresa Federici Rodriguez ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Genetic Disorders ◽  
Dairy Production ◽  
Leukocyte Adhesion Deficiency ◽  
Holstein Breed ◽  
Lethal Mutations ◽  
High Prevalence ◽  
Fetal Malformations ◽  
Holstein Calves ◽  
And Diffusion

ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country’s economy, but high levels of inbreeding have decreased the breed’s fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler™ Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.

scholarly journals SCREENING OF COMPLEX VERTEBRAL MALFORMATION (CVM) AND BOVINE LEUKOCYTE ADHESION DEFICIENCY (BLAD) IN THE AYRSHIRE CATTLE BREED IN THE NORTH CAUCASUS

2018 ◽  
Author(s):  
Vladimir TRUKHACHEV ◽  
Sergey OLEYNIK ◽  
Nikolay ZLYDNEV ◽  
Vitaliy MOROZOV
Keyword(s):  
Leukocyte Adhesion ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Cattle Breed ◽  
North Caucasus ◽  
Leukocyte Adhesion Deficiency ◽  
High Quality ◽  
Vertebral Malformation ◽  
The North ◽  
Dairy Breed

The Ayrshire dairy breed is renowned for producing large quantities of high quality milk and, therefore, is frequently used for crossbreeding. However, various hereditary anomalies caused by gene mutations have been recently recorded in calves produced by some Ayrshire sires. Most of these anomalies were shown to have a recessive inheritance pattern, thus imposing a threat of unpredictable dramatic changes in cattle genotypes under such factors as genetic drift, selection and inbreeding. The purpose of this study was to examine the susceptibility of the Ayrshire cattle bred in the North Caucasus to such hereditary abnormalities as complex vertebral malformation (CVM) and bovine leukocyte adhesion deficiency (BLAD). The investigation was carried out on 16 cows with various phenotype and reproduction disorders that were selected based on a three-year veterinary observation of 440 livestock animals. The target group cows were generally the descendants of Hannulan Yaskiyri, Riihiviidan Urho Errant and O.R. Lihting. The results demonstrated that no animals under study were the carriers of these genetic disorders, which proved the mutant alleles of BLAD and CVM to be absent from the Ayrshire cattle livestock bred in the North Caucasus. Therefore, the sires of these cattle can be successfully used for breeding.

scholarly journals Cytokine Profile of a Holstein Calf with Bovine Leukocyte Adhesion Deficiency during the Acute-Phase Inflammatory Response

2002 ◽  
Vol 64 (12) ◽  
pp. 1141-1143 ◽  
Author(s):  
Hajime NAGAHATA ◽  
Katsuro HAGIWARA ◽  
Masahiko KASAMATSU ◽  
Hidetoshi HIGUCHI ◽  
Takashi KUROSAWA
Keyword(s):  
Inflammatory Response ◽  
Acute Phase ◽  
Leukocyte Adhesion ◽  
Cytokine Profile ◽  
Leukocyte Adhesion Deficiency

Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1

Blood ◽  
2004 ◽  
Vol 103 (3) ◽  
pp. 1105-1113 ◽  
Author(s):  
Patricia Hixson ◽  
C. Wayne Smith ◽  
Susan B. Shurin ◽  
Michael F. Tosi
Keyword(s):  
Leukocyte Adhesion ◽  
Cytoplasmic Domain ◽  
Lymphocyte Function ◽  
Wild Type ◽  
Leukocyte Adhesion Deficiency ◽  
Binding Function ◽  
Domain Truncation ◽  
Low Levels ◽  
Deficiency Type

AbstractTwo novel CD18 mutations were identified in a patient who was a compound heterozygote with type 1 leukocyte adhesion deficiency and whose phenotype was typical except that he exhibited hypertrophic scarring. A deletion of 36 nucleotides in exon 12 (1622del36) predicted the net loss of 12 amino acid (aa) residues in the third cysteine-rich repeat of the extracellular stalk region (mut-1). A nonsense mutation in exon 15 (2200G>T), predicted a 36-aa truncation of the cytoplasmic domain (mut-2). Lymphocyte function-associated antigen 1 (LFA-1) and macrophage antigen-1 (Mac-1) containing the mut-1 β2 subunit were expressed at very low levels compared with wild-type (wt) β2. Mac-1 and LFA-1 expression with the mut-2 β2 subunit were equivalent to results with wt β2. Binding function of Mac-1 with mut-2 β2 was equivalent to that with wt β2. However, binding function of LFA-1 with the mut-2 β2 subunit was reduced by 50% versus wt β2. It was concluded that (1) the portion of the CD18 stalk region deleted in mut-1 is critical for β2 integrin heterodimer expression but the portion of the cytoplasmic domain truncated in mut-2 is not; and (2) the mut-2 cytoplasmic domain truncation impairs binding function of LFA-1 but not of Mac-1. Studies with the patient's neutrophils (PMNs) were consistent with functional impairment of LFA-1 but not of Mac-1. (Blood. 2004;103:1105-1113)

scholarly journals Primary immune deficiencies with defects in neutrophil function

Hematology ◽  
2016 ◽  
Vol 2016 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Mary C. Dinauer
Keyword(s):  
Fungal Infections ◽  
Leukocyte Adhesion ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Adaptor Protein ◽  
Invasive Fungal Disease ◽  
Neutrophil Function ◽  
Microbial Pathogens ◽  
Immune Deficiencies

Abstract Immune deficiencies resulting from inherited defects in neutrophil function have revealed important features of the innate immune response. Although sharing an increased susceptibility to bacterial and fungal infections, these disorders each have distinctive features in their clinical manifestations and characteristic microbial pathogens. This review provides an update on several genetic disorders with impaired neutrophil function, their pathogenesis, and treatment strategies. These include chronic granulomatous disease, which results from inactivating mutations in the superoxide-generating nicotinamide dinucleotide phosphate oxidase. Superoxide-derived oxidants play an important role in the control of certain bacterial and fungal species, and also contribute to the regulation of inflammation. Also briefly summarized are updates on leukocyte adhesion deficiency, including the severe periodontal disease characteristic of this disorder, and a new immune deficiency associated with defects in caspase recruitment domain–containing protein 9, an adaptor protein that regulates signaling in neutrophils and other myeloid cells, leading to invasive fungal disease.

MURINE PGK PROMOTER IN A LENTIVIRAL VECTOR IN CANINE LEUKOCYTE ADHESION DEFICIENCY AND IN HUMAN LAD-1 CD34+CELLS IN NSG MICE

2012 ◽  
Vol 07 (01) ◽  
pp. 1250001
Author(s):  
MICHAEL J. HUNTER ◽  
UIMOOK CHOI ◽  
LAURA M. TUSCHONG ◽  
HUIFEN ZHAO ◽  
SHERRY KOONTZ ◽  
...  
Keyword(s):  
Lentiviral Vector ◽  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Nsg Mice ◽  
Cd34 Cells
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