{"id":23895,"date":"2025-04-22T18:34:06","date_gmt":"2025-04-22T18:34:06","guid":{"rendered":"https:\/\/labgenvet.ca\/?page_id=23895"},"modified":"2025-04-22T18:34:06","modified_gmt":"2025-04-22T18:34:06","slug":"scurs-type-2-possible-abdominal-hernia-twist11-linked","status":"publish","type":"page","link":"https:\/\/labgenvet.ca\/en\/scurs-type-2-possible-abdominal-hernia-twist11-linked\/","title":{"rendered":"Scurs, type 2, (possible abdominal hernia), TWIST11-linked"},"content":{"rendered":"

Scurs, type 2, (possible abdominal hernia), TWIST11-linked<\/strong><\/h1>\n

 <\/p>\n

Gene<\/strong>:\u00a0TWIST1<\/p>\n

Transmission<\/strong>: Autosomal, dominant (variable penetration)<\/p>\n

The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. \u00a0Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation. \u00a0Offspring are potentially at risk of developing the disease if at least one parent carries the mutation.\u00a0 Alternatively, the disease is caused by a de novo mutation.<\/p>\n

Mutation<\/strong>: Duplication, TWIST1 gene; c.148_157 dup, p.(Ala56Arg frameshift STOP 87), chromosome 4.<\/p>\n

Breed<\/strong>: Charolais<\/p>\n

Medical system:<\/strong>\u00a0Skeletal, muscular.<\/p>\n

Age of onset of symptoms<\/strong>: With birth but may not be noticed until later in life.<\/p>\n

Scur is a defect in horn development seen in certain breeds of cattle that presents as an intermediate phenotype between normal horned and hornless (polled) phenotypes.\u00a0 In the scur animal, normal horn growth is replaced by small, loose boney growths that are not attached to the skull.\u00a0 In addition, cranial frontal bones undergo premature fusion (coronal suture synoptosis).\u00a0 The scur phenotype shows considerable variation between individuals, although in male animals the boney growths tend to be larger than in female animals.\u00a0 DNA studies in Charolais animals identified a heterozygous mutation in the TWIST1 gene as being responsible for the scur phenotype.\u00a0 As no homozygous mutant animals were seen, it was assumed that the homozygous condition was embryo lethal.\u00a0 The TWIST1 gene codes for a transcription factor important for differentiating embryonic mesoderm tissues.\u00a0 TWIST1 gene expression is important for normal bone growth by regulating osteogenic stem cell proliferation and osteoblast differentiation.\u00a0 Additional DNA studies in four herds of an extended Charolais pedigree revealed that the same mutation in the TWIST1 gene is also responsible for a congenital abdominal hernia phenotype, again with dominant heredity.\u00a0 The penetration of the hernia phenotype may be influenced by modifier genes as well as by environmental factors.<\/p>\n

 <\/p>\n

References:<\/strong><\/p>\n

OMIA link: \u00a0[1593-9913<\/a>], [2532-9913<\/a>]<\/p>\n

Grohs C, Boussaha M, Hoz\u00e9 C, Capitan A.\u00a0(2022<\/strong>) Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle.\u00a0Anim Genet\u00a053:239-241. [35187669<\/a>]<\/p>\n

He XH, Jiang L, Pu YB, et al. (2021) Progress on genetic mapping and genetic mechanism of cattle and sheep horns.\u00a0Yi Chuan\u00a043:40-51.\u00a0 [pm\/33509773<\/a>]<\/p>\n

Capitan A, Grohs C, Weiss B, et al. (2011<\/strong>) A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1.\u00a0PLoS One\u00a06:e22242. [pm\/21814570<\/a>]<\/p>\n

 <\/p>\n

Contributed by: Juliana Bouchard and Audrey Boudreault, Class of 2029, Facult\u00e9 de m\u00e9decine v\u00e9t\u00e9rinaire, Universit\u00e9 de Montr\u00e9al.\u00a0 (Translation DWS)<\/p>\n","protected":false},"excerpt":{"rendered":"

Scurs, type 2, (possible abdominal hernia), TWIST11-linked   Gene:\u00a0TWIST1 Transmission: Autosomal, dominant (variable penetration) The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. \u00a0Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with…<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-23895","page","type-page","status-publish","hentry","description-off"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23895","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/comments?post=23895"}],"version-history":[{"count":1,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23895\/revisions"}],"predecessor-version":[{"id":23896,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23895\/revisions\/23896"}],"wp:attachment":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/media?parent=23895"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}