OMIA 000042-9031 : Analphalipoproteinaemia in Gallus gallus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 205400

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Species-specific name: Wisconsin hypoalpha mutant (WHAM)

Mapping: Bitgood (1985) and Bitgood (1988) reported loose linkage of the WHAM locus to loci B and ID on the chicken Z chromosome. Fridolfsson et al. (1998) showed that this region contains the genes ALDOB and MUSK, which were physically mapped to Zq1.5-1.6, which is homologous with human HSA9q22.3–q32.

Molecular basis: The causal mutation for this disorder was identified via a comparative positional cloning approach (as described in the Mapping section above, the locus was mapped to a region of the chicken Z chromosome (GGAZ) that is homologous to human HSA9q22.3-32, which includes the gene ABCA1, mutations in which cause Tangier disease, which is similar to this chicken disorder). Sequencing of the chicken ABCA1 gene by Attie et al. (2002) revealed the causal mutation as "a missense mutation [G265A] near the N-terminus of the protein (E89K)". The authors reported that "This alteration is a non-conservative amino acid substitution at a residue that is conserved in the ABCA1 gene between human, mouse, chicken, and Takifugu rubripes (“fugu”)".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 Gallus gallus Z NC_006127.5 (54902448..54811100) ABCA1 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.

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
Wisconsin hypoalpha mutant (WHAM) Analphalipoproteinaemia ABCA1 missense Gallus_gallus-5.0 Z g.54792686 c.265G>A p.E89K 2002 12364545 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2002 Attie, A.D., Hamon, Y., Brooks-Wilson, A.R., Gray-Keller, M.P., MacDonald, M.L.E., Rigot, V., Tebon, A., Zhang, L.H., Mulligan, J.D., Singaraja, R.R., Bitgood, J.J., Cook, M.E., Kastelein, J.J.P., Chimini, G., Hayden, M.R. :
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken Journal of Lipid Research 43:1610-1617, 2002. Pubmed reference: 12364545.
1998 Fridolfsson, A.K., Cheng, H., Copeland, N.G., Jenkins, N.A., Liu, H.C., Raudsepp, T., Woodage, T., Chowdhary, B., Halverson, J., Ellegren, H. :
Evolution of the avian sex chromosomes from an ancestral pair of autosomes. Proc Natl Acad Sci U S A 95:8147-52, 1998. Pubmed reference: 9653155.
1992 Poernama, F., Subramanian, R., Cook, M.E., Attie, A.D. :
High Density Lipoprotein Deficiency Syndrome in Chickens Is Not Associated with an Increased Susceptibility to Atherosclerosis Arteriosclerosis and Thrombosis 12:601-607, 1992. Pubmed reference: 1576121.
1990 Poernama, F., Schreyer, S.A., Bitgood, J.J., Cook, M.E., Attie, A.D. :
Spontaneous High Density Lipoprotein Deficiency Syndrome Associated with a Z-Linked Mutation in Chickens Journal of Lipid Research 31:955-963, 1990. Pubmed reference: 2373963.
1988 Bitgood, J.J. :
Linear relationship of the loci for barring, dermal melanin inhibitor, and recessive white skin on the chicken Z chromosome Poultry Science 67:530–533, 1988.
1985 Bitgood, J.J. :
Additional linkage relationships within the Z chromosome of the chicken Poultry Science 64:2234–2238, 1985.

Edit History


  • Created by Frank Nicholas on 15 Nov 2005
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012