Abstract:
BACKGROUND:The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of normal and defective sperm. RESULTS:All three malformed calves were examined using necropsy, histopathology and computed tomography scanning. The phenotypic appearance of the affected calves was highly similar; they presented with severe disproportionate dwarfism and reduced body weight. The syndrome was characterized by brachygnathia superior, bilateral palatoschisis, shortening and compression of the body due to malformed vertebrae, in their size reduced and malformed ribs and reduced length of the long bones of the limbs. The bones had small irregular diaphyses and enlarged epiphyses. Whole genome sequencing of one bulldog calf, sperm of its sire Energy P and a normal progeny of Energy P identified a deleterious missense mutation (g.32476082G > A, c.2986G > A, ss2019324576) within COL2A1 on bovine chromosome (BTA) 5. Sanger sequencing confirmed the ss2019324576 variant in the affected calves and sperm of Energy P. This mutation is located within the collagen triple helix repeat and causes an exchange of glycine to serine (p.996G > S) in COL2A1. This private single nucleotide variant (SNV) was present as a gonadal mosaic in sperm of the bull. All affected calves were in a heterozygous state whereas normal half-siblings and all dams of the progeny from Energy P were missing this SNV. Validation in polled Holstein bulls and normal Holstein calves randomly sampled from several herds and from the LuFG Ruthe confirmed this SNV as private. CONCLUSIONS:The identified spontaneous missense mutation within COL2A1 is most likely the cause of lethal chondrodysplasia in the progeny of Energy P through a dominant negative effect. This example suggests that it would be beneficial to conduct whole genome sequencing of sperm from bulls widely used in artificial insemination in order to detect germline mosaicism.
journal_name
BMC Genomicsjournal_title
BMC genomicsauthors
Reinartz S,Mohwinkel H,Sürie C,Hellige M,Feige K,Eikelberg D,Beineke A,Metzger J,Distl Odoi
10.1186/s12864-017-4153-0subject
Has Abstractpub_date
2017-10-10 00:00:00pages
762issue
1issn
1471-2164pii
10.1186/s12864-017-4153-0journal_volume
18pub_type
杂志文章相关文献
BMC GENOMICS文献大全abstract:BACKGROUND:Wheat is an excellent species to study freezing tolerance and other abiotic stresses. However, the sequence of the wheat genome has not been completely characterized due to its complexity and large size. To circumvent this obstacle and identify genes involved in cold acclimation and associated stresses, a la...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-7-149
更新日期:2006-06-13 00:00:00
abstract:BACKGROUND:Microsatellites (repeated subsequences based on motifs of one to six nucleotides) are widely used as codominant genetic markers because of their frequent polymorphism and relative selective neutrality. Minisatellites are repeats of motifs having seven or more nucleotides. The large number of EST sequences no...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-8-173
更新日期:2007-06-15 00:00:00
abstract:BACKGROUND:The packaging of DNA into chromatin regulates transcription from initiation through 3' end processing. One aspect of transcription in which chromatin plays a poorly understood role is the co-transcriptional splicing of pre-mRNA. RESULTS:Here we provide evidence that H2B monoubiquitylation (H2BK123ub1) marks...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-12-627
更新日期:2011-12-22 00:00:00
abstract:BACKGROUND:Prostate cancer (PCa) is a leading cause of cancer-related death of men worldwide. There is an urgent need to develop novel biomarkers for PCa prognosis and diagnosis in the post prostate-specific antigen era. Long intergenic noncoding RNAs (lincRNAs) play essential roles in many physiological processes and ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-16-S7-S3
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Finger millet (Eleusine coracana (L.) Gaertn.) is an important staple food crop widely grown in Africa and South Asia. Among the millets, finger millet has high amount of calcium, methionine, tryptophan, fiber, and sulphur containing amino acids. In addition, it has C4 photosynthetic carbon assimilation mech...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-3850-z
更新日期:2017-06-15 00:00:00
abstract:BACKGROUND:Polypyrimidine-tract binding proteins (PTBs) are ubiquitous RNA-binding proteins in plants and animals that play diverse role in RNA metabolic processes. PTB proteins bind to target RNAs through motifs rich in cytosine/uracil residues to fine-tune transcript metabolism. Among tuber and root crops, potato has...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-4502-7
更新日期:2018-02-07 00:00:00
abstract:BACKGROUND:Molecular mechanisms underlying coral larval competence, the ability of larvae to respond to settlement cues, determine their dispersal potential and are potential targets of natural selection. Here, we profiled competence, fluorescence and genome-wide gene expression in embryos and larvae of the reef-buildi...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-4392-0
更新日期:2018-01-04 00:00:00
abstract:BACKGROUND:Bacteria in the genus Ruminococcus are ubiquitous members of the mammalian gastrointestinal tract. In particular, they are important in ruminants where they digest a wide range of plant cell wall polysaccharides. For example, Ruminococcus albus 7 is a primary cellulose degrader that produces acetate usable b...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-1066
更新日期:2014-12-04 00:00:00
abstract:BACKGROUND:Soybean seed weight is not only a yield component, but also a critical trait for various soybean food products such as sprouts, edamame, soy nuts, natto and miso. Linkage analysis and genome-wide association study (GWAS) are two complementary and powerful tools to connect phenotypic differences to the underl...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-3922-0
更新日期:2017-07-12 00:00:00
abstract:BACKGROUND:microRNAs (miRNAs) are important regulators of translation and have been implicated in the pathogenesis of a number of cardiovascular diseases, including stroke, and suggested as possible prognostic biomarkers. Our aim was to identify miRNAs that are differentially regulated in cerebral arteries after subara...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-015-1341-7
更新日期:2015-02-22 00:00:00
abstract:BACKGROUND:Post-translational glycosylation of the flagellin protein is relatively common among Gram-negative bacteria, and has been linked to several phenotypes, including flagellar biosynthesis and motility, biofilm formation, host immune evasion and manipulation and virulence. However to date, despite extensive phys...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-016-2735-x
更新日期:2016-05-20 00:00:00
abstract:BACKGROUND:Insect mitochondrial genomes (mitogenomes) are the most extensively used genetic marker for evolutionary and population genetics studies of insects. The Pentatomoidea superfamily is economically important and the largest superfamily within Pentatomomorpha with over 7,000 species. To better understand the div...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-015-1679-x
更新日期:2015-06-16 00:00:00
abstract:BACKGROUND:Ramie (Boehmeria nivea L.), popularly known as "China grass", is one of the oldest crops in China and the second most important fiber crop in terms of area sown. Ramie fiber, extracted from the plant bast, is important in the textile industry. However, the molecular mechanism of ramie fiber development remai...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-919
更新日期:2014-10-22 00:00:00
abstract:BACKGROUND:Rice false smut caused by Villosiclava virens is a devastating fungal disease that spreads in major rice-growing regions throughout the world. However, the genomic information for this fungal pathogen is limited and the pathogenic mechanism of this disease is still not clear. To facilitate genetic, molecular...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-883
更新日期:2013-12-16 00:00:00
abstract:BACKGROUND:Skeletal muscle mass can be markedly reduced through a process called atrophy, as a consequence of many diseases or critical physiological and environmental situations. Atrophy is characterised by loss of contractile proteins and reduction of fiber volume. Although in the last decade the molecular aspects un...
journal_title:BMC genomics
pub_type: 杂志文章,meta分析
doi:10.1186/1471-2164-9-630
更新日期:2008-12-23 00:00:00
abstract:BACKGROUND:MicroRNAs (miRNAs) are a class of noncoding small RNAs (sRNAs) that are 20-24 nucleotides (nt) in length. Extensive studies have indicated that miRNAs play versatile roles in plants, functioning in processes such as growth, development and stress responses. Chilling is a common abiotic stress that seriously ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-1130
更新日期:2014-12-17 00:00:00
abstract:BACKGROUND:Expression profiling has been proposed as a means for screening non-model organisms in their natural environments to identify genes potentially important in adaptive diversification. Tag profiling using high throughput sequencing is a relatively low cost means of expression profiling with deep coverage. Howe...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-322
更新日期:2012-07-19 00:00:00
abstract:BACKGROUND:The contribution of a gene to the fitness of a bacterium can be assayed by whether and to what degree the bacterium tolerates transposon insertions in that gene. We use this fact to compare the fitness of syntenic homologous genes among related Salmonella strains and thereby reveal differences not apparent a...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-212
更新日期:2012-05-30 00:00:00
abstract:BACKGROUND:The preferred habitat of a given bacterium can provide a hint of which types of enzymes of potential industrial interest it might produce. These might include enzymes that are stable and active at very high or very low temperatures. Being able to accurately predict this based on a genomic sequence, would thu...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-S7-S3
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Mango fruits contain a broad spectrum of phenolic compounds which impart potential health benefits; their biosynthesis is catalysed by enzymes in the phenylpropanoid-flavonoid (PF) pathway. The aim of this study was to reveal the variability in genes involved in the PF pathway in three different mango variet...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-015-1784-x
更新日期:2015-07-30 00:00:00
abstract:BACKGROUND:The Pacific oyster Crassostrea gigas is an important fishery resource that is sensitive to temperature fluctuations. Thus, it has evolved a protection mechanism against heat stress by increasing the expression of the gene coding for heat shock protein (HSP) 70 under elevated temperatures. In other animals, h...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-6003-8
更新日期:2019-08-08 00:00:00
abstract:BACKGROUND:The substantially large bread wheat genome, organized into highly similar three sub-genomes, renders genomic research challenging. The construction of BAC-based physical maps of individual chromosomes reduces the complexity of this allohexaploid genome, enables elucidation of gene space and evolutionary rela...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-015-1641-y
更新日期:2015-06-13 00:00:00
abstract:BACKGROUND:We have reported that doxycycline-induced over-expression of wild type prion protein (PrP) in skeletal muscles of Tg(HQK) mice is sufficient to cause a primary myopathy with no signs of peripheral neuropathy. The preferential accumulation of the truncated PrP C1 fragment was closely correlated with these myo...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-10-201
更新日期:2009-04-28 00:00:00
abstract:BACKGROUND:BCG is the most widely used vaccine of all time and remains the only licensed vaccine for use against tuberculosis in humans. BCG also protects other species such as cattle against tuberculosis, but due to its incompatibility with current tuberculin testing regimens remains unlicensed. BCG's efficacy relates...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-5791-1
更新日期:2019-05-28 00:00:00
abstract:BACKGROUND:Citrus shoot tips abscise at an anatomically distinct abscission zone (AZ) that separates the top part of the shoots into basal and apical portions (citrus self-pruning). Cell separation occurs only at the AZ, which suggests its cells have distinctive molecular regulation. Although several studies have looke...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-892
更新日期:2014-10-13 00:00:00
abstract:BACKGROUND:Climate plays an essential role in forest health, and climate change may increase forest productivity losses due to abiotic and biotic stress. Increased temperature leads to the increased formation of ozone (O3). Ozone is formed by the interaction of sunlight, molecular oxygen and by the reactions of chemica...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-020-6549-5
更新日期:2020-02-14 00:00:00
abstract:BACKGROUND:Due to the limited availability and high cost of fish oil in the face of increasing aquaculture production, there is a need to reduce usage of fish oil in aquafeeds without compromising farm fish health. Therefore, the present study was conducted to determine if different levels of vegetable and fish oils ca...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-4099-2
更新日期:2017-09-08 00:00:00
abstract:BACKGROUND:The rapid growth of the world's population demands an increase in food production that no longer can be reached by increasing amounts of nitrogenous fertilizers. Plant growth promoting bacteria (PGPB) might be an alternative to increase nitrogenous use efficiency (NUE) in important crops such wheat. Azospiri...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-378
更新日期:2014-05-16 00:00:00
abstract:BACKGROUND:An organism can respond to changing environmental conditions by adjusting gene regulation and by forming alternative phenotypes. In nematodes, these mechanisms are coupled because many species will form dauer larvae, a stress-resistant and non-aging developmental stage, when exposed to unfavorable environmen...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-254
更新日期:2012-06-19 00:00:00
abstract:BACKGROUND:Ser/Thr/Tyr kinases (STYKs) commonly found in eukaryotes have been recently reported in many bacterial species. Recent studies elucidating their cellular functions have established their roles in bacterial growth and development. However functions of a large number of bacterial STYKs still remain elusive. Th...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-6-129
更新日期:2005-09-19 00:00:00