2017
DOI: 10.1186/s12864-017-4153-0
|View full text |Cite
|
Sign up to set email alerts
|

Abstract: BackgroundThe 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.ResultsAll three malformed calves were examined using necropsy, histopatholog… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

1
16
1

Year Published

2018
2018
2022
2022

Publication Types

Select...
6
1
1

Relationship

1
7

Authors

Journals

citations
Cited by 11 publications
(18 citation statements)
references
References 25 publications
1
16
1
Order By: Relevance
“…The clinical findings of these cases were similar to those identified in the Miniature Zebu investigated in this work. Phenotypic characteristics in the affected Miniature Zebu were typical for bulldog syndrome, similar to those previously described in Dexter [ 1 , 3 , 7 ], Holstein Friesian [ 9 , 11 , 19 ], Miniature Scottish Highland [ 8 , 13 ] and Miniature belted Galloways [ 8 ] due to generalized chondrodysplasia. Only two genes, ACAN [ 17 ] and COL2A1 [ 9 12 ], were so far identified harboring causative variants for these bulldog types.…”
Section: Discussionsupporting
confidence: 79%
See 2 more Smart Citations
“…The clinical findings of these cases were similar to those identified in the Miniature Zebu investigated in this work. Phenotypic characteristics in the affected Miniature Zebu were typical for bulldog syndrome, similar to those previously described in Dexter [ 1 , 3 , 7 ], Holstein Friesian [ 9 , 11 , 19 ], Miniature Scottish Highland [ 8 , 13 ] and Miniature belted Galloways [ 8 ] due to generalized chondrodysplasia. Only two genes, ACAN [ 17 ] and COL2A1 [ 9 12 ], were so far identified harboring causative variants for these bulldog types.…”
Section: Discussionsupporting
confidence: 79%
“…Variant effect prediction was performed using the Variant Effect Predictor [ 46 ] based on UMD 3.1 assembly for SIFT [ 47 ] predictions. A candidate gene list for the terms chondrodysplasia, dwarfism, growth retardation, proportionate dwarfism and inherited congenital skeletal malformations was prepared using NCBI Gene database and supplemented with further genes identified in previous studies [ 9 , 11 ].…”
Section: Methodsmentioning
confidence: 99%
See 1 more Smart Citation
“…A Gly1170Ser mutation potentially interrupts the mandatory Gly-X-Y triplet sequence required for the normal formation of stable triple-helical type II collagen molecules, which could further lead to the degradation of premature collagen molecules, or to the production of overmodified type II collagen. [36,37] Earlier molecular analysis has demonstrated that specific sites located within a triple-helical region of the collagen molecule serve as important binding sites of telopeptides in the early stages of fibril formation.…”
Section: Discussionmentioning
confidence: 99%
“…Those studies considered an overall population, dealing with such problems as its extinction, the fixation of specific alleles, the coexistence of different alleles, their rates of growth, etc. In many real cases, however, only a part of the population was observed, usually a pedigree or a family tree (see, for example, in [18][19][20] for human populations and [21][22][23][24][25][26] for populations of other animals) related to a target genetic trait (usually originating from mutation), so that the total number of females and males in the overall population to which the pedigree belongs is unknown. The pedigree usually has its own characteristics since, for example, mating with relatives (i.e., individuals within the pedigree) may be forbidden so that external individuals to the pedigree from the rest of the overall population have to be chosen as mates.…”
Section: Introductionmentioning
confidence: 99%