{"id":23930,"date":"2025-04-23T13:18:22","date_gmt":"2025-04-23T13:18:22","guid":{"rendered":"https:\/\/labgenvet.ca\/?page_id=23930"},"modified":"2025-04-23T13:24:09","modified_gmt":"2025-04-23T13:24:09","slug":"lymphocyte-intestinal-retention-defect-itgb7-related","status":"publish","type":"page","link":"https:\/\/labgenvet.ca\/en\/lymphocyte-intestinal-retention-defect-itgb7-related\/","title":{"rendered":"Lymphocyte intestinal retention defect, ITGB7-related"},"content":{"rendered":"

Lymphocyte intestinal retention defect, ITGB7-related<\/strong><\/h1>\n

 <\/p>\n

Gene<\/strong>:\u00a0ITGB7<\/p>\n

Transmission<\/strong>: Autosomal, recessive (probably)<\/p>\n

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.\u00a0 Both parents of an affected animal must be carriers of at least one copy of the mutation.\u00a0 Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.<\/p>\n

Mutation<\/strong>: Substitution, ITGB7 gene; c.904 G>A, p.(Gly375Ser), chromosome 5.<\/p>\n

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

Medical system:<\/strong>\u00a0Immunologic<\/p>\n

Age of onset of symptoms<\/strong>: During adolescence.<\/p>\n

To identify genetic patterns that might be responsible for subtle deleterious health phenotypes with incomplete penetration which might be contributing to inbreeding depression, a reverse genetics approach based genetic association studies of almost 400,000 Holstein animals was performed.\u00a0 Animals that were homozygous for a mutation in the ITGB7 gene were identified for phenotypic studies.\u00a0 These animals were found to have stunted growth, poor production traits and reduced daily gains compared to controls.\u00a0 Chronic diarrhea may be an additional feature.\u00a0 Blood analysis showed increased white blood cell and lymphocyte counts, however, on necropsy, a complete absence of specific T-cells within the lamina propria of the jejunum was observed.\u00a0 The ITGB7 gene is expressed in intestinal T-cells where it codes for a subunit of an integrin cell adhesion molecule.\u00a0\u00a0 This specific integrin molecule is involved in T-cell migration from the blood stream to digestive tissues and thus is an important component of intestinal immunity.\u00a0 Pedigree analysis revealed that popular sire effects as well as artificial insemination contributed to the dissemination of the ITGB7 mutation within Holstein populations.\u00a0 Genetic companies and breeders of Holsteins can now use DNA tests to eliminate this mutation from their genetic stock.<\/p>\n

 <\/p>\n

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

OMIA link: [2872-9913<\/a>]<\/p>\n

Inokuma H, Maezawa M, Tahara G, et al. (2025<\/strong>) Retrospective detection of ITGB7 gene mutation in a Holstein calf with chronic diarrhea that was suspected of hereditary cholesterol deficiency.\u00a0J Vet Med Sci\u00a087:273-276. [pm\/39814374<\/a>]<\/p>\n

Leuenberger T, Jacinto JPG, Seefried FR, Dr\u00f6gem\u00fcller C. (2024<\/strong>) BLIRD \u2013 eine neue genetische Erkrankung beim Holsteinrind in der Schweiz [BLIRD – a new genetic disease in Holstein cattle in Switzerland].\u00a0Schweiz Arch Tierheilkd\u00a0166:511-518.\u00a0 [pm\/39330956<\/a>]<\/p>\n

Besnard F, Guintard A, Grohs C, Guzylack-Piriou L, et al. (2024<\/strong>) Massive detection of cryptic recessive genetic defects in cattle mining millions of life histories. Genome Biol 25(1):248.\u00a0 [pm\/39343954<\/a>]<\/p>\n

van den Berg I, Nguyen TV, Nguyen TTT, (2024<\/strong>) Imputation accuracy and carrier frequency of deleterious recessive defects in Australian dairy cattle.\u00a0J Dairy Sci\u00a0107:9591-9601.\u00a0 [pm\/38945256<\/a>]<\/p>\n

 <\/p>\n

Contributed by: Kim Cloutier Rattelle and Sierra Mrozinski, 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":"

Lymphocyte intestinal retention defect, ITGB7-related   Gene:\u00a0ITGB7 Transmission: Autosomal, recessive (probably) For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.\u00a0 Both parents of an affected animal must be carriers of at least one copy of the mutation.\u00a0 Animals that…<\/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-23930","page","type-page","status-publish","hentry","description-off"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23930","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=23930"}],"version-history":[{"count":4,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23930\/revisions"}],"predecessor-version":[{"id":23935,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23930\/revisions\/23935"}],"wp:attachment":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/media?parent=23930"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}