↓ Skip to main content

Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle

Overview of attention for article published in BMC Genomics, April 2015
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

news
2 news outlets
policy
1 policy source
twitter
4 X users

Citations

dimensions_citation
67 Dimensions

Readers on

mendeley
76 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Published in
BMC Genomics, April 2015
DOI 10.1186/s12864-015-1483-7
Pubmed ID
Authors

Hubert Pausch, Hermann Schwarzenbacher, Johann Burgstaller, Krzysztof Flisikowski, Christine Wurmser, Sandra Jansen, Simone Jung, Angelika Schnieke, Thomas Wittek, Ruedi Fries

Abstract

Cattle breeding populations are susceptible to the propagation of recessive diseases. Individual sires generate tens of thousands of progeny via artificial insemination. The frequency of deleterious alleles carried by such sires may increase considerably within few generations. Deleterious alleles manifest themselves often by missing homozygosity resulting from embryonic/fetal, perinatal or juvenile lethality of homozygotes. A scan for homozygous haplotype deficiency in 25,544 Fleckvieh cattle uncovered four haplotypes affecting reproductive and rearing success. Exploiting whole-genome resequencing data from 263 animals facilitated to pinpoint putatively causal mutations in two of these haplotypes. A mutation causing an evolutionarily unlikely substitution in SUGT1 was perfectly associated with a haplotype compromising insemination success. The mutation was not found in homozygous state in 10,363 animals (P = 1.79 × 10(-5)) and is thus likely to cause lethality of homozygous embryos. A frameshift mutation in SLC2A2 encoding glucose transporter 2 (GLUT2) compromises calf survival. The mutation leads to premature termination of translation and activates cryptic splice sites resulting in multiple exon variants also with premature translation termination. The affected calves exhibit stunted growth, resembling the phenotypic appearance of Fanconi-Bickel syndrome in humans (OMIM 227810), which is also caused by mutations in SLC2A2. Exploiting comprehensive genotype and sequence data enabled us to reveal two deleterious alleles in SLC2A2 and SUGT1 that compromise pre- and postnatal survival in homozygous state. Our results provide the basis for genome-assisted approaches to avoiding inadvertent carrier matings and to improving reproductive and rearing success in Fleckvieh cattle.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 76 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 18 24%
Student > Ph. D. Student 13 17%
Student > Master 9 12%
Student > Postgraduate 4 5%
Student > Bachelor 4 5%
Other 12 16%
Unknown 16 21%
Readers by discipline Count As %
Agricultural and Biological Sciences 32 42%
Veterinary Science and Veterinary Medicine 6 8%
Biochemistry, Genetics and Molecular Biology 5 7%
Medicine and Dentistry 4 5%
Environmental Science 2 3%
Other 5 7%
Unknown 22 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 21. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 January 2023.
All research outputs
#1,556,042
of 23,567,572 outputs
Outputs from BMC Genomics
#346
of 10,777 outputs
Outputs of similar age
#20,826
of 266,210 outputs
Outputs of similar age from BMC Genomics
#10
of 269 outputs
Altmetric has tracked 23,567,572 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 10,777 research outputs from this source. They receive a mean Attention Score of 4.7. This one has done particularly well, scoring higher than 96% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 266,210 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 92% of its contemporaries.
We're also able to compare this research output to 269 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.