Facts about Albino Dobermans
Lethal Albino Mutations
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(modified 6/1/04)
Lindqvist, J. O. (1998). Lethal white foal syndrome in a horse. Svensk Veterinartidning, 50(10), 431-432.
Chou, J. Y., Ruppert, S., Shelly, L. L., & Pan, C. J. (1991).
Isolation and characterization of mouse hepatocyte lines carrying a
lethal albino deletion. Journal of Biological Chemistry, 266(9),
5716-5722. Mice homozygous for chromosomal deletions at or around the
albino locus on chromosome 7 express reduced levels of a group of liver
genes, including tyrosine aminotransferase (TAT) and
phosphoenolpyruvate carboxykinase (PEPCK), and generally die
perinatally.....
Kelsey, G., & Schutz, G. (1993). Lessons from lethal albino mice.
Current Opinion in Genetics and Development, 3(2), 259-264. This review
includes consideration of molecular genetic aspects of lethal albino
deletions. Results from the analysis of mice homozygous for lethal
albino deletions suggested the existence of a locus involved in the
regulation of gene expression in the liver. The finding that the locus
encodes an enzyme active in tyrosine metabolism has made re-evaluation
of the lethal albino phenotype necessary, and means that caution is
needed in the interpretation of seemingly simple phenotypes.
Klein, C., Philippe, N., Le Deist, F., Fraitag, S., Prost, C., Durandy,
A., Fischer, A., & Griscelli, C. (1994). Partial albinism with
immunodeficiency (Griscelli syndrome). J Pediatr, 125(6 Pt 1), 886-95.
Partial albinism with immunodeficiency is a rare and fatal immunologic
disorder characterized by pigmentary dilution and variable cellular
immunodeficiency. ....Primary abnormalities included a silvery-grayish
sheen to the hair, large pigment agglomerations in hair shafts, and an
abundance of mature melanosomes in melanocytes, with reduced
pigmentation of adjacent keratinocytes. Clinical onset occurred between
the ages of 4 months and 4 years and was characterized by accelerated
phases (lymphohistiocytic infiltration of multiple organs, including
the brain and the meninges), triggered by viral and bacterial
infections. Characteristic laboratory features included pancytopenia,
hypofibrinogenemia, hypertriglyceridemia, and hypoproteinemia.
Consistent immunologic abnormalities were characterized by absent
delayed-type cutaneous hypersensitivity and impaired natural killer
cell function. Some patients had secondary hypogammaglobulinemia,
impaired major histocompatibility complex-mediated cytotoxic effects, a
decreased capacity of lymphocytes to trigger a mixed lymphocyte
reaction, or various functional granulocytic abnormalities. The disease
seems to be invariably lethal without bone marrow transplantation; the
mean age at the time of death was 5 years. ....
Lacour, J. P., & Ortonne, J. P. (1992). [Oculocutaneous albinism].
Ann Pediatr Paris, 39(7), 409-18. Oculocutaneous albinism (OCA) is an
inherited condition characterized by hypopigmentation of the skin,
hair, and eyes. Ocular involvement is often severe with photophobia,
decreased visual acuity due to foveal hypoplasia, nystagmus, and
strabism secondary to defective routing of optic axons in the chiasma.
Cutaneous hypopigmentation is responsible for diminished
photoprotection that places patients at increased risk for skin
cancers. OCA also occurs in a number of life-threatening conditions,
including Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and
Griscelli-Prunieras syndrome. ....
Pastural, E., Barrat, F. J., Dufourcq Lagelouse, R., Certain, S.,
Sanal, O., Jabado, N., Seger, R., Griscelli, C., Fischer, A., & de
Saint Basile, G. (1997). Griscelli disease maps to chromosome 15q21 and
is associated with mutations in the myosin-Va gene. Nat Genet, 16(3),
289-92. Griscelli disease (OMIM 214450) is a rare autosomal recessive
disorder characterized by pigmentary dilution, variable cellular
immunodeficiency and onset of acute phases of uncontrolled lymphocyte
and macrophage activation, leading to death in the absence of
bone-marrow transplantation. ....A similar disorder has been described
in the dilute lethal mouse--which, however, differs by the occurrence
of a severe neurological disorder.....
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