Study of congenital Morgagnian cataracts in Holstein calves

Cataracts are focal to diffuse opacities of the eye lens causing impaired vision or complete blindness. For bilateral congenital cataracts in Red Holsteins a perfectly cosegregating mutation within the CPAMD8 gene (CPAMD8:g.5995966C>T) has been reported. We genotyped the CPAMD8:g.5995966C>T variant in Holstein calves affected by congenital bilateral congenital cataracts, their unaffected relatives and randomly selected herd mates. Ophthalmological examinations were performed in all affected individuals to confirm a congenital cataract. Whole genome sequencing was employed to screen variants in candidate genes for the Morgagnian cataract phenotype. In the present study, 3/35 cases were confirmed as homozygous mutated and 6/14 obligate carriers. Further 7/46 unaffected animals related with these cases were heterozygous mutated for the CPAMD8:g.5995966C>T variant. However 32 cases with a congenital cataract showed the wild type for the CPAMD8 variant. We did not identify variants in the candidate genes CPAMD8 and NID1 or in their close neighborhood as strongly associated with the congenital cataract phenotype in Holstein calves with the CPAMD8 wild type. In conclusion, the CPAMD8:g.5995966C>T variant is insufficient to explain the majority of Morgagnian congenital cataract phenotypes in Holsteins. It is very likely that congenital bilateral cataracts may be genetically heterogeneous and not yet known variants in genes other than CPAMD8 and NID1 are involved

Validation of Deleterious Mutations in Vorderwald Cattle

<div><p>In Montbéliarde cattle two candidate mutations on bovine chromosomes 19 and 29 responsible for embryonic lethality have been detected. Montbéliarde bulls have been introduced into Vorderwald cattle to improve milk and fattening performance. Due to the small population size of Vorderwald cattle and the wide use of a few Montbéliarde bulls through artificial insemination, inbreeding on Montbéliarde bulls in later generations was increasing. Therefore, we genotyped an aborted fetus which was inbred on Montbéliarde as well as Vorderwald x Montbéliarde crossbred bulls for both deleterious mutations. The abortion was observed in an experimental herd of Vorderwald cattle. The objectives of the present study were to prove if one or both lethal mutations may be assumed to have caused this abortion and to show whether these deleterious mutations have been introduced into the Vorderwald cattle population through Montbéliarde bulls. The aborted fetus was homozygous for the SLC37A2:g.28879810C>T mutation (ss2019324563) on BTA29 and both parents as well as the paternal and maternal grandsire were heterozygous for this mutation. In addition, the parents and the paternal grandsire were carriers of the MH2-haplotype linked with the T-allele of the SLC37A2:g.28879810C>T mutation. For the SHBG:g.27956790C>T mutation (rs38377500) on BTA19 (MH1), the aborted fetus and its sire were heterozygous. Among all further 341 Vorderwald cattle genotyped we found 27 SLC37A2:g.28879810C>T heterozygous animals resulting in an allele frequency of 0.0396. Among the 120 male Vorderwald cattle, there were 12 heterozygous with an allele frequency of 0.05. The SLC37A2:g.28879810C>T mutation could not be found in further nine cattle breeds nor in Vorderwald cattle with contributions from Ayrshire bulls. In 69 Vorderwald cattle without genes from Montbéliarde bulls the mutated allele of SLC37A2:g.28879810C>T could not be detected. The SHBG:g.27956790C>T mutation appeared unlikely to be responsible for the present case of abortion and, in addition, we observed this mutation in a homozygous state in a living animal. In conclusion, we could demonstrate the first case of an aborted fetus carrying the deleterious SLC37A2:g.28879810C>T mutation homozygous and show that this deleterious mutation had been introduced through Montbéliarde bulls into Vorderwald cattle.</p></div

PCR-based restriction fragment analysis of the SLC37A2:g.28879810C>T mutation for the aborted fetus and its sire and dam.

<p>The amplicon with the mutated allele has a size of 352 base pairs (bp). The amplicon for the wildtype is digested by the restriction enzyme KpnI in fragments with sizes of 94 and 258 bp. The fetus homozygous for the mutated allele, the heterozygous dam and sire and an unrelated animal homozygous for the wildtype allele are shown.</p

Number of Vorderwald cattle and their frequency of heterozygous (het) and homozygous (hom) mutated genotypes for the mutations SHBG:g.27956790C>T (rs38377500) located on bovine chromosome (BTA) 19 and SLC37A2:g.28879810C>T (ss2019324563) located on BTA29 (UMD3.1) for the samples from the experimental herd, the aborted fetus and farms in the Black Forest.

<p>Number of Vorderwald cattle and their frequency of heterozygous (het) and homozygous (hom) mutated genotypes for the mutations SHBG:g.27956790C>T (rs38377500) located on bovine chromosome (BTA) 19 and SLC37A2:g.28879810C>T (ss2019324563) located on BTA29 (UMD3.1) for the samples from the experimental herd, the aborted fetus and farms in the Black Forest.</p

Aborted fetus observed in the experimental Vorderwald cattle herd.

<p>The fetus had a crown-rump length of 70 mm.</p

THE ENMAP CONTEST: DEVELOPING AND COMPARING CLASSIFICATION APPROACHES FOR THE ENVIRONMENTAL MAPPING AND ANALYSIS PROGRAMME – DATASET AND FIRST RESULTS

The Environmental Mapping and Analysis Programme EnMAP is a hyperspectral satellite mission, supposed to be launched into space in the near future. EnMAP is designed to be revolutionary in terms of spectral resolution and signal-to-noise ratio. Nevertheless, it will provide a relatively high spatial resolution also. In order to exploit the capacities of this future mission, its data have been simulated by other authors in previous work. EnMAP will differ from other spaceborne and airborne hyperspectral sensors. Thus, the assumption that the standard classification algorithms from other sensors will perform best for EnMAP as well cannot by upheld since proof. Unfortunately, until today, relatively few studies have been published to investigate classification algorithms for EnMAP. Thus, the authors of this study, who have provided some insights into classifying simulated EnMAP data before, aim to encourage future studies by opening the EnMAP contest. The EnMAP contest consists in a benchmark dataset provided for algorithm development, which is presented herein. For demonstrative purposes, this report also represents two classification results which have already been realized. It furthermore provides a roadmap for other scientists interested in taking part in the EnMAP contest

La Tierra de Segovia : diario independiente: Año II Número 453 - 1920 diciembre 1

Copia digital. Madrid : Ministerio de Cultura. Subdirección General de Coordinación Bibliotecaria, 200

MOESM3 of Phenotypic classification of variability of non-syndromic congenital cleft lip and jaw in Vorderwald × Montbéliarde cattle

Additional file 3. a) The picture shows the muzzle of case 4 with a complete left-sided cleft lip and a macroform on the right side of the lip. b) Computed tomography scanning image of the head showing the lateral view of the skull. The arrow marks the deficit of bony substance (50 %) ventral to the bone shaft corresponded to the macroform of a cleft lip

Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family

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

Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect.

Hypospadias, disorder of sex development (DSD), is a sporadic congenital abnormality of the genital region in male ruminants, which is characterized by a non-fused urethra during fetal development. Detailed clinical examination classified the hypospadias phenotype of a male Holstein calf studied here as the perineal type. In combined use of cytogenetic analysis and whole genome sequencing, a non-mosaic, pseudo-monosomy 59, XY + tan(18;27) was detected. This chromosomal aberration had its origin in a tandem fusion translocation of the bovine autosomes (BTA) 18 and 27 with an accompanying loss of genomic sequences mainly in the distal end of BTA 18 and the proximal end of BTA 27. The resulting phenotype included hypospadias, growth retardation and ventricular septal defect