OMIA 000865-9031 : Restricted ovulator in Gallus gallus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 192977

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
VLDLR very low density lipoprotein receptor Gallus gallus Z NC_006127.5 (26557390..26572231) VLDLR Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Restricted ovulator VLDLR missense c.G>C p.C682S 1995 7568242

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., 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.
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.
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