Genes and phenotypes

Stitzel JA (2008) Naturally occurring genetic variability in the nicotinic acetylcholine receptor alpha4 and alpha7 subunit genes and phenotypic diversity in humans and mice. Front Biosci 13 477 91... 

Tsui, L-C. and Estivill, X. (1991). Identification of disease genes on the basis of chromosomal localization. In Genome Analysis Volume 3 Genes and Phenotypes. K.E.Davies and S.M.Tilghman, eds. (New York Cold Spring Harbor Laboratory Press), pp. 1 36. 

Bahri SM, Qua W. DPhK-gamma, a putative Drosophila kina.se with homology to vertebrate phosphorylase kina.se gamma subunits molecular characterization of the gene and phenotypic analysis of loss of function mutants. Mol Gen Genet 1994 245 588-597. 

Glasgow WC, Afshari CA, Barrett JC, Eling TE. Modulation of the epidermal growth factor mitogenic response by metabolites of linoleic and arachidonic acid in Syrian hamster embryo fibroblasts. Differential effects in tumor suppressor gene (+) and (-) phenotypes. J Biol Chem 1992 267 10771-10779. 

Knocking out genes and identification of mutations in the human genes provide information on the role of AQPs in normal physiology. The lack of some AQPs directly results in a disease phenotype, while the physiological role of many becomes clear when the putative function is challenged. 

In maize, many phenotypic mutants have been associated with cloned genes by a combination of HPLC analysis of specific intermediate metabolite accumulation, RT-PCR and immunolocalization of candidate genes, and recombinant inbred mapping of candidate cDNAs. Psyl was cloned by transposon tagging and later shown to be functional in the color complementation system and to be the specific... 

Joober, R., Benkelfat, C., Brisebois, K. et al. (1999). T102C polymorphism in the 5HT2A gene and schizophrenia relation to phenotype and drug response variability. /. Psych. Neurosci., 24, 141-6. 

---