OMIA:000702-9031 : Nanomelia in Gallus gallus (chicken) |
Categories: Limbs / fins / digit / tail phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612813 (trait) , 165800 (trait) , 608361 (trait) , 155760 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1994
Molecular basis: By cloning and sequencing a very likely candidate gene (based on prior physiological and biochemical studies, reinforced by strong linkage between the disorder and that gene), Primorac et al. (1994) demonstrated "A stop codon . . . at codon 1513, which is located in the eighth repeat of the chondroitin sulfate 2 domain of the large tenth exon [of the avian aggrecan gene]."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ACAN | aggrecan | Gallus gallus | 10 | NC_052541.1 (13104655..13060505) | ACAN | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 323 | Nanomelia | ACAN | nonsense (stop-gain) | Naturally occurring variant | GRCg6a | 10 | g.13502829C>A | c.4537G>T | p.(E1513*) | 1994 | 7827752 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000702-9031: 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.
| 2003 | Mosher, T.J., Chen, Q., Smith, M.B. : |
| 1H magnetic resonance spectroscopy of nanomelic chicken cartilage: effect of aggrecan depletion on cartilage T2. Osteoarthritis Cartilage 11:709-15, 2003. Pubmed reference: 13129689. | |
| 2000 | Velleman, S.G. : |
| The role of the extracellular matrix in skeletal development. Poult Sci 79:985-9, 2000. Pubmed reference: 10901199. | |
| 1999 | Primorac, D., Johnson, C.V., Lawrence, J.B., McKinstry, M.B., Stover, M.L., Schanfield, M.S., Andelinovic, S., Tadic, T., Rowe, D.W. : |
| Premature termination codon in the aggrecan gene of nanomelia and its influence on mRNA transport and stability Croatian Medical Journal 40:528-532, 1999. Pubmed reference: 10554355. | |
| 1996 | Domowicz, M., Krueger, R.C., Li, H., Mangoura, D., Vertel, B.M., Schwartz, N.B. : |
| The nanomelic mutation in the aggrecan gene is expressed in chick chondrocytes and neurons International Journal of Developmental Neuroscience 14:191-201, 1996. Pubmed reference: 8842798. | |
| 1995 | Li, H., Schwartz, N.B. : |
| Gene structure of chick cartilage chondroitin sulfate proteoglycan (aggrecan) core protein Journal of Molecular Evolution 41:878-885, 1995. Pubmed reference: 8587132. | |
| 1994 | Primorac, D., Stover, M.L., Clark, S.H., Rowe, D.W. : |
| Molecular basis of nanomelia, a heritable chondrodystrophy of chicken Matrix Biology 14:297-305, 1994. Pubmed reference: 7827752. | |
| Vertel, B.M., Grier, B.L., Li, H., Schwartz, N.B. : | |
| The chondrodystrophy, nanomelia: biosynthesis and processing of the defective aggrecan precursor Biochemical Journal 301:211-216, 1994. Pubmed reference: 8037674. | |
| 1993 | Chandrasekaran, L., Tanzer, M.L. : |
| Molecular Cloning of Chicken Aggrecan (Vol 288, Pg 903, 1992) Biochemical Journal 296:885, 1993. Pubmed reference: 8280087. | |
| Li, H., Schwartz, B., Vertel, B.M. : | |
| cDNA Cloning of Chick Cartilage Chondroitin Sulfate (Aggrecan) Core Protein and Identification of a Stop Codon in the Aggrecan Gene Associated with the Chondrodystrophy, Nanomelia Journal of Biological Chemistry 268:23504-23511, 1993. Pubmed reference: 8226878. | |
| Velleman, S.G., Haines, J.S., Pierro, L.J. : | |
| Screening for Carriers of the Avian Cartilage Proteoglycan Core Protein Defect, Nanomelia, by Denaturing Gradient Gel Electrophoresis Journal of Heredity 84:147-149, 1993. Pubmed reference: 8228166. | |
| Vertel, B.M., Walters, L.M., Grier, B., Maine, N., Goetinck, P.F. : | |
| Nanomelic chondrocytes synthesize, but fail to translocate, a truncated aggrecan precursor. J Cell Sci 104 ( Pt 3):939-48, 1993. Pubmed reference: 8314884. DOI: 10.1242/jcs.104.3.939. | |
| 1992 | Chandrasekaran, L., Tanzer, M.L. : |
| Molecular Cloning of Chicken Aggrecan - Structural Analyses Biochemical Journal 288:903-910, 1992. Pubmed reference: 1339285. | |
| Velleman, S.G., Clark, S.H. : | |
| The cartilage proteoglycan deficient mutation, nanomelia, contains a DNA polymorphism in the proteoglycan core protein gene that is genetically linked to the nanomelia phenotype. Matrix 12:66-72, 1992. Pubmed reference: 1560791. | |
| Wong, M., Lawton, T., Goetinck, P.F., Kuhn, J.L., Goldstein, S.A., Bonadio, J. : | |
| Aggrecan Core Protein Is Expressed in Membranous Bone of the Chick Embryo - Molecular and Biomechanical Studies of Normal and Nanomelia Embryos Journal of Biological Chemistry 267:5592-5598, 1992. Pubmed reference: 1372006. | |
| 1988 | Goetinck, P.F. : |
| Studies on the avian chondrodysplasia mutant, nanomelia. Pathol Immunopathol Res 7:73-5, 1988. Pubmed reference: 3146751. | |
| O'Donnell, C.M., Kaczman-Daniel, K., Goetinck, P.F., Vertel, B.M. : | |
| Nanomelic chondrocytes synthesize a glycoprotein related to chondroitin sulfate proteoglycan core protein. J Biol Chem 263:17749-54, 1988. Pubmed reference: 3182870. | |
| 1987 | Stirpe, N.S., Argraves, W.S., Goetinck, P.F. : |
| Chondrocytes from the cartilage proteoglycan-deficient mutant, nanomelia, synthesize greatly reduced levels of the proteoglycan core protein transcript Development Biology 124:77-81, 1987. | |
| 1983 | McKeown-Longo, P.J., Velleman, S.G., Goetinck, P.F. : |
| The independent synthesis and secretion of cartilage proteoglycan and link protein by embryonic chicken chondrocytes. J Biol Chem 258:10779-85, 1983. Pubmed reference: 6885801. | |
| 1965 | Landauer, W. : |
| Nanomelia, a lethal mutation of the fowl. J Hered 56:131-8, 1965. Pubmed reference: 14328419. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 31 Aug 2012