OMIA 000426-9913 : Gonadal hypoplasia in Bos taurus |
In other species:
sheep
Possibly relevant human trait(s) and/or gene(s) (MIM number):
164920 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2013
Cross-species summary:
Incomplete development or underdevelopment of the gonads (testes or ovaries).
Species-specific description:
This disorder is associated with white coat colour (Lauvergne, 1970).
Mapping:
By conducting a GWAS on 21 affected and 75 control Northern Finncattle and Swedish Mountain cattle, each genotyped with the Illumina BovineHD SNp chip (yielding 647,971 informative SNPs), Venhoranta et al. (2013) mapped this disorder to chromosome BTA29. Further testing identified a 2.81Mb region between 17.69 Mb and 20.50 Mb. A copy number variant (CNV) analysis identified "a CNV segment on BTA6, extending from 71.60 Mb to 72.13 Mb and containing the KIT gene" and another on BTA29, but both of these were thought to reflect associations with the extent of white coat colour rather than the disorder.
Molecular basis:
Aware that the molecular cause of colour-sidedness in cattle (OMIA 001576-9913) results from reciprocal translocation between segments on chromosomes BTA6 (containing the KIT gene) and BTA29, Venhoranta et al. (2013) built on their mapping results (above) with cytogenetic and PCR analyses, and concluded "that homozygosity of a ~500 kb chromosomal segment translocated from BTA6 to BTA29 (Cs29 allele) is the underlying genetic mechanism responsible for gonadal hypoplasia. The duplicated segment includes the KIT gene that is known to regulate the migration of germ cells and precursors of melanocytes. This duplication is also one of the two translocations associated with colour sidedness in various cattle breeds."
Breeds:
Northern Finncattle,
Swedish Mountain.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIT | KIT proto-oncogene receptor tyrosine kinase | Bos taurus | 6 | NC_037333.1 (70166681..70254049) | KIT | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 748 | Northern Finncattle Swedish Mountain | Gonadal hypoplasia | KIT | cs(29) | complex rearrangement | Naturally occurring variant | 6 | "gonadal hypoplasia in Northern Finncattle and Swedish Mountain cattle is associated with a complex chromosomal rearrangement including a ~500kb duplicated segment from BTA6 which is translocated to BTA29. This duplicated segment includes the entire coding sequence of the KIT gene" | 2013 | 24086604 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2013 | Venhoranta, H., Pausch, H., Wysocki, M., Szczerbal, I., Hänninen, R., Taponen, J., Uimari, P., Flisikowski, K., Lohi, H., Fries, R., Switonski, M., Andersson, M. : | |
| Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus). PLoS One 8:e75659, 2013. Pubmed reference: 24086604. DOI: 10.1371/journal.pone.0075659. | ||
| 1996 | Kawakura, K., Miyake, Y.I., Murakami, R.K., Kondoh, S., Hirata, T.I., Kaneda, Y. : | |
| Deletion of the SRY region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet Cell Genet 72:183-4, 1996. Pubmed reference: 8978769. | ||
| 1970 | Lauvergne, J.J. : | |
| Gonadal hypoplasia and white coat colour in Swedish Highland cattle Journal of Heredity 61:43-44, 1970. Pubmed reference: 5480937. | ||
| 1968 | Kodagali, S.B., Kerur, V.K. : | |
| Gonadal hypoplasia in Gir cattle. Indian Vet J 45:114-8, 1968. Pubmed reference: 4384967. | ||
| 1964 | Settergren, I. : | |
| The ovarian morphology in clinical bovine gonadal hypoplasia with some aspects of its endogrine relations. Stockh Almqvist Wiksells :108, 1964. | ||
| 1961 | Lagerlöf, N., Settergren, I. : | |
| Gonadenhypoplasie beim Rind der Schwedischen Gebirgsrasse. Zuchthygiene 5:141-158, 1961. | ||
| 1956 | Lagerloff, N. : | |
| [Gonadal hypoplasia in cattle of a Swedish mountain breed; summary of 20 years of study]. Ann Ostet Ginecol 78:87-105, 1956. Pubmed reference: 13373157. | ||
| 1953 | Lagerloef, N., Settergren, I. : | |
| Results of seventeen years control of hereditary ovarian hypoplasia in the Swedish Highland Breed. Cornell Veterinarian 43:52-64, 1953. Pubmed reference: 13010079. | ||
| Lagerlof, N., Boyd, H. : | ||
| Ovarian hypoplasia and other abnormal conditions in the sexual organs of cattle of the Swedish Highland breed; results of postmortem examination of over 6,000 cows. Cornell Vet 43:64-79, 1953. Pubmed reference: 13010080. | ||
| 1943 | Eriksson, K. : | |
| Hereditary forms of sterility in cattle. biological and genetical investigations. Håkan Ohlssons Boktryckeri :155, 1943. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 13 Oct 2013