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Complex vertebral malformation

January 01, 1970

Complex vertebral malformation or CVM is a lethal hereditary syndrome found in Holstein cattle.[1][2] CVM is responsible for malformed calves that are either spontaneously aborted or die shortly after birth.[1][3] It is caused by a missense mutation in the SLC35A3 gene.[2] Since the mutant form of the gene is recessive, only individuals carrying two copies of the faulty gene (homozygous individuals) are affected. Heterozygous individuals, those who carry one copy of the faulty gene and one copy of the normal gene, have no symptoms but may still pass the disease on to their offspring.[2][3]

Origin edit

CVM has been traced back to the bull Carlin-M Ivanhoe Bell who lived in the 1980s. He was used for two decades in international Holstein breeding for the exceptional milk production he passed on to his daughters.[2] Unusually, Carlin-M Ivanhoe Bell was a carrier for two genetic diseases, CVM and Bovine leukocyte adhesion deficiency (BLAD). The BLAD and CVM genes are located in different chromosomes. When the sire (father) of Carlin-M Ivanhoe Bell, a bull named Penstate Ivanhoe Star, was tested he was found to be a carrier of both CVM and BLAD. Carlin-M Ivanhoe Bell's grandsire Osborndale Ivanhoe, however, carried only BLAD.[2] Scientists therefore believe that the mutation responsible for CVM occurred either in Penstate Ivanhoe Star, or somewhere in his maternal family.[2]

The CVM syndrome was first found in a Danish Holstein stock in 1999, and during the following years it was also found in the United States, United Kingdom, Netherlands, and Japan.[2] Because of the wide international usage of Carlin-M Ivanhoe Bell and the large number of animals descending from him, the CVM gene is found in Holstein cattle throughout the world. By the turn of the 21st century, more than 30 percent of the best Holstein sires in both Denmark and Japan were CVM carriers.[2]

A test for CVM was developed in the turn of the 21st century, and was first used in Denmark in 2000.[1]

Effects edit

CVM is caused by a missense mutation in the bovine SLC35A3 gene. The mutant protein has the amino acid phenylalanine at position 180 instead of valine. This causes abnormal nucleotide-sugar transport into the Golgi apparatus, leading to malformations of the vertebral column. CVM is the first genetic disorder found to be caused by defects in the SLC35A3 gene.[2] The mutation responsible for CVM is recessively inherited, and heterozygous carriers of the mutation are asymptomatic.[2][3] CVM analysis found the bovine SLC35A3 to be the first nucleotide-sugar transportation regulating gene also responsible in the formation of vertebrae and ribs.[2]

CVM affects foetal development, being a cause of frequent abortions and stillbirths.[2] Affected calves express low birth weight and a variety of malformations in the vertebrae and heart.[3] Diagnose based on just visual examination of a calf may be difficult due to the wide variety in the expression of anomalies, and a definite diagnosis requires DNA testing.[2]

Abortions edit

As many as 88 percent of homozygous, CVM-affected foetuses are spontaneously aborted within 260 days from the insemination.[1] A normal bovine pregnancy lasts 280 days. Only 4-5 percent of CVM affected foetuses are calved alive.[1] These calves however are nonviable.[4]

Malformations edit

 
Articulation of the bovine metacarpal.

A CVM affected calf typically has an abnormally short neck and crooked pasterns.[2] Other malformations associated with CVM are malformations or fusing of vertebrae, scoliosis, contraction and crookedness of distal joints, and abnormal shape of head.[2][4] Hearts of CVM affected calves have been found to have, among other, abnormal placement of main vessels.[4]

Production and breeding edit

CVM is a cause of multiple problems for a cattle farmer. A CVM carrier cow's fertility is 25% lower than normal, and abortions lead to lowered milk production.[1] For these reasons, CVM carriers are often culled.[1]

CVM carrier bulls have been pre-eliminated in Europe since the turn of the 21st century. Older stud bulls were also tested, and some of the best animals were found to be carriers. This culling led to a period of slowed progress in dairy breeding in a number of European countries.[5]

References edit

  1. ^ a b c d e f g Sander Nielsen, Ulrik; Pedersen Aamand, Gert (2002). "CVM on hedelmällisyysongelma (abridged version of a Shortbroget kvaeg article published in the 4/2001 issue)" [CVM is a fertility issue]. Nauta (in Finnish). 32 (2): 32–33.
  2. ^ a b c d e f g h i j k l m n o Bo Thomsen; Per Horn; Frank Panitz; Emøke Bendixen; Anette H. Petersen; Lars-Erik Holm; Vivi H. Nielsen; Jørgen S. Agerholm; Jens Arnbjerg; Christian Bendixen (2006). "A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation". Genome Research. 16 (1): 97–105. doi:10.1101/gr.3690506. PMC 1356133. PMID 16344554. Retrieved 2017-02-08.
  3. ^ a b c d [Bovine CVM research] (in Finnish). FABA Jalostus osk. 2009. Archived from the original on 2012-03-13. Retrieved 2011-04-27.
  4. ^ a b c . 2004. Archived from the original on 2010-07-17. Retrieved 2010-07-31.
  5. ^ Kiljunen, Jaana (2003). "Lypsyrotujen jalostusarvostelussa ei uusia yllättäjiä" [No new surprise contenders in the dairy breeding evaluations]. Nauta (in Finnish) (2): 34.

External links edit

  • Morphological variation of "complex vertebral malformation" in Holstein calves
  • Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle
  • Complex vertebral malformation in holstein calves

January 01, 1970
complex, vertebral, malformation, lethal, hereditary, syndrome, found, holstein, cattle, responsible, malformed, calves, that, either, spontaneously, aborted, shortly, after, birth, caused, missense, mutation, slc35a3, gene, since, mutant, form, gene, recessiv. Complex vertebral malformation or CVM is a lethal hereditary syndrome found in Holstein cattle 1 2 CVM is responsible for malformed calves that are either spontaneously aborted or die shortly after birth 1 3 It is caused by a missense mutation in the SLC35A3 gene 2 Since the mutant form of the gene is recessive only individuals carrying two copies of the faulty gene homozygous individuals are affected Heterozygous individuals those who carry one copy of the faulty gene and one copy of the normal gene have no symptoms but may still pass the disease on to their offspring 2 3 Contents 1 Origin 2 Effects 2 1 Abortions 2 2 Malformations 2 3 Production and breeding 3 References 4 External linksOrigin editCVM has been traced back to the bull Carlin M Ivanhoe Bell who lived in the 1980s He was used for two decades in international Holstein breeding for the exceptional milk production he passed on to his daughters 2 Unusually Carlin M Ivanhoe Bell was a carrier for two genetic diseases CVM and Bovine leukocyte adhesion deficiency BLAD The BLAD and CVM genes are located in different chromosomes When the sire father of Carlin M Ivanhoe Bell a bull named Penstate Ivanhoe Star was tested he was found to be a carrier of both CVM and BLAD Carlin M Ivanhoe Bell s grandsire Osborndale Ivanhoe however carried only BLAD 2 Scientists therefore believe that the mutation responsible for CVM occurred either in Penstate Ivanhoe Star or somewhere in his maternal family 2 The CVM syndrome was first found in a Danish Holstein stock in 1999 and during the following years it was also found in the United States United Kingdom Netherlands and Japan 2 Because of the wide international usage of Carlin M Ivanhoe Bell and the large number of animals descending from him the CVM gene is found in Holstein cattle throughout the world By the turn of the 21st century more than 30 percent of the best Holstein sires in both Denmark and Japan were CVM carriers 2 A test for CVM was developed in the turn of the 21st century and was first used in Denmark in 2000 1 Effects editCVM is caused by a missense mutation in the bovine SLC35A3 gene The mutant protein has the amino acid phenylalanine at position 180 instead of valine This causes abnormal nucleotide sugar transport into the Golgi apparatus leading to malformations of the vertebral column CVM is the first genetic disorder found to be caused by defects in the SLC35A3 gene 2 The mutation responsible for CVM is recessively inherited and heterozygous carriers of the mutation are asymptomatic 2 3 CVM analysis found the bovine SLC35A3 to be the first nucleotide sugar transportation regulating gene also responsible in the formation of vertebrae and ribs 2 CVM affects foetal development being a cause of frequent abortions and stillbirths 2 Affected calves express low birth weight and a variety of malformations in the vertebrae and heart 3 Diagnose based on just visual examination of a calf may be difficult due to the wide variety in the expression of anomalies and a definite diagnosis requires DNA testing 2 Abortions edit As many as 88 percent of homozygous CVM affected foetuses are spontaneously aborted within 260 days from the insemination 1 A normal bovine pregnancy lasts 280 days Only 4 5 percent of CVM affected foetuses are calved alive 1 These calves however are nonviable 4 Malformations edit nbsp Articulation of the bovine metacarpal A CVM affected calf typically has an abnormally short neck and crooked pasterns 2 Other malformations associated with CVM are malformations or fusing of vertebrae scoliosis contraction and crookedness of distal joints and abnormal shape of head 2 4 Hearts of CVM affected calves have been found to have among other abnormal placement of main vessels 4 Production and breeding edit CVM is a cause of multiple problems for a cattle farmer A CVM carrier cow s fertility is 25 lower than normal and abortions lead to lowered milk production 1 For these reasons CVM carriers are often culled 1 CVM carrier bulls have been pre eliminated in Europe since the turn of the 21st century Older stud bulls were also tested and some of the best animals were found to be carriers This culling led to a period of slowed progress in dairy breeding in a number of European countries 5 References edit a b c d e f g Sander Nielsen Ulrik Pedersen Aamand Gert 2002 CVM on hedelmallisyysongelma abridged version of a Shortbroget kvaeg article published in the 4 2001 issue CVM is a fertility issue Nauta in Finnish 32 2 32 33 a b c d e f g h i j k l m n o Bo Thomsen Per Horn Frank Panitz Emoke Bendixen Anette H Petersen Lars Erik Holm Vivi H Nielsen Jorgen S Agerholm Jens Arnbjerg Christian Bendixen 2006 A missense mutation in the bovine SLC35A3 gene encoding a UDP N acetylglucosamine transporter causes complex vertebral malformation Genome Research 16 1 97 105 doi 10 1101 gr 3690506 PMC 1356133 PMID 16344554 Retrieved 2017 02 08 a b c d Naudan CVM tutkimus Bovine CVM research in Finnish FABA Jalostus osk 2009 Archived from the original on 2012 03 13 Retrieved 2011 04 27 a b c Complex Vertebral Malformation CVM 2004 Archived from the original on 2010 07 17 Retrieved 2010 07 31 Kiljunen Jaana 2003 Lypsyrotujen jalostusarvostelussa ei uusia yllattajia No new surprise contenders in the dairy breeding evaluations Nauta in Finnish 2 34 External links editMorphological variation of complex vertebral malformation in Holstein calves Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle Complex vertebral malformation in holstein calves Retrieved from https en wikipedia org w index php title Complex vertebral malformation amp oldid 1219882967, wikipedia, wiki, book, books, library,

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