OMIA:000865-9031 : Restricted ovulator in Gallus gallus (chicken) |
Categories: Reproductive system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 192977 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Z-linked recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1995
Species-specific symbol: ro
Species-specific description: A comprehensive review of this disorder is provided by Elkin et al. (2012).
History: This mutant phenotype was first reported by Ho et al. (1974) and was named "restricted ovulator" by Jones et al. (1975).
Inheritance: McGibbon (1977) provided evidence of Z-linked recessive inheritance.
Molecular basis: By cloning and sequencing a very likely candidate gene (based on detailed prior physiological and biochemical studies), Bujo et al. (1995; PNAS 92: 9905–9909) showed that this chicken disorder is due to a mutation in the gene encoding very low density lipoprotein receptor (VLDLR): "The mutation converts a cysteine residue into a serine, resulting in an unpaired cysteine and greatly reduced expression of the mutant avian VLDLR on the oocyte surface."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| VLDLR | very low density lipoprotein receptor | Gallus gallus | Z | NC_052572.1 (27059520..27074222) | VLDLR | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 15 | Restricted ovulator | VLDLR | missense | Naturally occurring variant | Z | c.G>C | p.(C682S) | 1995 | 7568242 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:000865-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2012 | Elkin, R.G., Bauer, R., Schneider, W.J. : |
| The restricted ovulator chicken strain: an oviparous vertebrate model of reproductive dysfunction caused by a gene defect affecting an oocyte-specific receptor. Anim Reprod Sci 136:1-13, 2012. Pubmed reference: 23123285. DOI: 10.1016/j.anireprosci.2012.10.002. | |
| 2010 | Giles, JR., Elkin, RG., Trevino, LS., Urick, ME., Ramachandran, R., Johnson, PA. : |
| The restricted ovulator chicken: a unique animal model for investigating the etiology of ovarian cancer. Int J Gynecol Cancer 20:738-44, 2010. Pubmed reference: 20973263. | |
| 2007 | Ocón-Grove, O.M., Maddineni, S., Hendricks, G.L., Elkin, R.G., Proudman, J.A., Ramachandran, R. : |
| Pituitary progesterone receptor expression and plasma gonadotrophin concentrations in the reproductively dysfunctional mutant restricted ovulator chicken. Domest Anim Endocrinol 32:201-15, 2007. Pubmed reference: 16677794. DOI: 10.1016/j.domaniend.2006.03.003. | |
| 2006 | Elkin, R.G., Zhong, Y., Donkin, S.S., Hengstschläger-Ottnad, E., Schneider, W.J. : |
| Effects of atorvastatin on lipid metabolism in normolipidemic and hereditary hyperlipidemic, non-laying hens. Comp Biochem Physiol B Biochem Mol Biol 143:319-29, 2006. Pubmed reference: 16413806. DOI: 10.1016/j.cbpb.2005.12.002. | |
| 2004 | Kim, WK., Ford, BC., Mitchell, AD., Elkin, RG., Leach, RM. : |
| Comparative assessment of bone among wild-type, restricted ovulator and out-of-production hens. Br Poult Sci 45:463-70, 2004. Pubmed reference: 15484719. DOI: 10.1080/00071660412331286172. | |
| 2003 | Elkin, R.G., Zhong, Y., Porter, R.E, Jr., Walzem, R.L. : |
| Validation of a modified PCR-based method for identifying mutant restricted ovulator chickens: substantiation of genotypic classification by phenotypic traits Poultry Science 82:517-25, 2003. Pubmed reference: 12710468. | |
| 2002 | Elkin, R.G., Zhong, Y. : |
| Assessment of reproductive function in mutant restricted ovulator carrier roosters Poultry Science 81:1280-1282, 2002. Pubmed reference: 12269604. | |
| 1997 | Bujo, H., Hermann, M., Lindstedt, K.A., Nimpf, J., Schneider, W.J. : |
| Low density lipoprotein receptor gene family members mediate yolk deposition. J Nutr 127:801S-804S, 1997. Pubmed reference: 9164240. | |
| 1996 | Bujo, H., Elkin, R.G., Lindstedt, K.A., Nimpf, J., Bitgood, J.J., Schneider, W.J. : |
| A rapid, polymerase chain reaction-based procedure for identifying mutant restricted ovulator chickens Poultry Science 75:1113-1117, 1996. Pubmed reference: 8878269. | |
| 1995 | Bujo, H., Yamamoto, T., Hayashi, K., Hermann, M., Nimpf, J., Schneider, W.J. : |
| Mutant oocytic low density lipoprotein receptor gene family member causes atherosclerosis and female sterility. Proc Natl Acad Sci U S A 92:9905-9, 1995. Pubmed reference: 7568242. | |
| Bujo, H., Lindstedt, K.A., Hermann, M., Dalmau, L.M., Nimpf, J., Schneider, W.J. : | |
| Chicken oocytes and somatic cells express different splice variants of a multifunctional receptor. J Biol Chem 270:23546-51, 1995. Pubmed reference: 7559519. | |
| 1994 | Bujo, H., Hermann, M., Kaderli, M.O., Jacobsen, L., Sugawara, S., Nimpf, J., Yamamoto, T., Schneider, W.J. : |
| Chicken oocyte growth is mediated by an eight ligand binding repeat member of the LDL receptor family EMBO Journal 13:5165-5175, 1994. Pubmed reference: 7957081. | |
| 1991 | Nimpf, J., Schneider, W.J. : |
| Receptor-mediated lipoprotein transport in laying hens. J Nutr 121:1471-4, 1991. Pubmed reference: 1880624. | |
| 1990 | Stifani, S., Barber, D.L., Nimpf, J., Schneider, W.J. : |
| A single chicken oocyte plasma membrane protein mediates uptake of very low density lipoprotein and vitellogenin. Proc Natl Acad Sci U S A 87:1955-9, 1990. Pubmed reference: 2308956. | |
| 1989 | Nimpf, J., Radosavljevic, M.J., Schneider, W.J. : |
| Oocytes from the Mutant Restricted Ovulator Hen Lack Receptor for Very Low Density Lipoprotein Journal of Biological Chemistry 264:1393-1398, 1989. Pubmed reference: 2912962. | |
| Smith, T.L., Kummerow, F.A. : | |
| Effect of dietary vitamin E on plasma lipids and atherogenesis in restricted ovulator chickens. Atherosclerosis 75:105-9, 1989. Pubmed reference: 2712855. | |
| 1988 | Smith, T.L., Kummerow, F.A. : |
| Plasma lipid peroxidation and atherosclerosis in restricted ovulator chickens. Basic Life Sci 49:941-4, 1988. Pubmed reference: 3250543. | |
| 1984 | Leszczynski, D.E., Hagan, R.C., Rowe, S.E., Kummerow, F.A. : |
| Plasma sex hormone and lipid patterns in normal and restricted-ovulator chicken hens. Gen Comp Endocrinol 55:280-8, 1984. Pubmed reference: 6479575. | |
| 1981 | Toda, T., Leszczynski, D., Nishimori, I., Kummerow, F. : |
| Arterial lesions in restricted-ovulator chickens with endogenous hyperlipidemia. Avian Dis 25:162-78, 1981. Pubmed reference: 7271653. | |
| 1980 | Tokuyasu, K., Imai, H., Taura, S., Cho, B.H., Kummerow, F.A. : |
| Aortic lesions in nonlaying hens with endogenous hyperlipidemia. Arch Pathol Lab Med 104:41-5, 1980. Pubmed reference: 6892521. | |
| 1979 | Grau, C.R., Roudybush, T.E., McGibbon, W.H. : |
| Mineral composition of yolk fractions and whole yolk from eggs of restricted ovulator hens. Poultry Science 58:1143–1148, 1979. | |
| Mitchell, A.D., Carlson, S.E., McGibbon, W.H., Goldfarb, S. : | |
| Hepatic HMG CoA reductase and cholesterol 7 alpha-hydroxylase activities in normal and hyperlipidemic-restricted ovulator atherosclerosis-prone chickens before and after the commencement of egg laying. Atherosclerosis 32:11-21, 1979. Pubmed reference: 465110. | |
| 1977 | McGibbon, W.H. : |
| Evidence that the restricted ovulator gene (ro) in the chicken is sex-linked. Genetics 86:s43-s44, 1977. | |
| 1976 | Schjeide, OA., Briles, WE., Holshouser, S., Jones, DG. : |
| Effect of "restricted ovulator" gene on uptake of yolk-precursor protein. Cell Tissue Res 166:109-16, 1976. Pubmed reference: 174819. | |
| 1975 | Jones D.G., Briles W.E., Schjeide O.A. : |
| A mutation restricting ovulation in chickens. Poultry Science 54:1780 (abstract), 1975. | |
| 1974 | Ho, K.J., Lawrence, W.D., Lewis, L.A., Liu, L.B., Taylor, C.B. : |
| Hereditary hyperlipidemia in nonlaying chickens. Arch Pathol 98:161-72, 1974. Pubmed reference: 4852258. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 17 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 31 Aug 2012
- Changed by Frank Nicholas on 17 May 2013