CircRNA-derived pseudogenes

Mutations in the Tyrosinase gene (TYR, 11q14–q21) cause oculocutaneous albinism type 1 (OCA1). The 3′-region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase-Like Gene (TYRL, 11p11.2–cen). A large number of publicly available nucleotide variants of TYR in this region are same as the bases present in the identical locations in the pseudogene. PCR amplification of these regions using primers with sequences common to both loci may result in coamplification of TYR and TYRL, and may lead to misinterpretation of the results. We have resolved this potential problem using locus-specific amplification conditions that could be used to identify unequivocally mutations and SNPs in exon 4 and exon 5 of TYR and proximal flanking sequences. Hum Mutat 26(1), 53–58, 2005. © 2005 Wiley-Liss, Inc.

10.1002/humu.20171

Cite

Citations (28)

The primary structure of a feline class I gene: Striking similarity toHLA-A

Immunogenetics (1989)

Martien van Hoof Jan Peter de Geus Marleen H. Roos Caroline Brown Heinz Jacobs

Pseudogene

Stop codon

Sequence (biology)

10.1007/bf02425272

Cite

Citations (2)

The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene.

PubMed (1989)

Shioko Kimura M Umeno Radek C. Skoda Urs Meyer Frank J. Gonzalez

Debrisoquine

Pseudogene

genomic DNA

Source

Cite

Citations (407)

High Genetic Diversity in the Chemoreceptor Superfamily of Caenorhabditis elegans

Genetics (2004)

M. Kathryn Stewart Nathan L. Clark Gennifer E. Merrihew Evan M. Galloway James H. Thomas

We investigated genetic polymorphism in the Caenorhabditis elegans srh and str chemoreceptor gene families, each of which consists of approximately 300 genes encoding seven-pass G-protein-coupled receptors. Almost one-third of the genes in each family are annotated as pseudogenes because of apparent functional defects in N2, the sequenced wild-type strain of C. elegans. More than half of these "pseudogenes" have only one apparent defect, usually a stop codon or deletion. We sequenced the defective region for 31 such genes in 22 wild isolates of C. elegans. For 10 of the 31 genes, we found an apparently functional allele in one or more wild isolates, suggesting that these are not pseudogenes but instead functional genes with a defective allele in N2. We suggest the term "flatliner" to describe genes whose functional vs. pseudogene status is unclear. Investigations of flatliner gene positions, d(N)/d(S) ratios, and phylogenetic trees indicate that they are not readily distinguished from functional genes in N2. We also report striking heterogeneity in the frequency of other polymorphisms among these genes. Finally, the large majority of polymorphism was found in just two strains from geographically isolated islands, Hawaii and Madeira. This suggests that our sampling of wild diversity in C. elegans is narrow and that identification of additional strains from similarly isolated regions will greatly expand the diversity available for study.

Pseudogene

Caenorhabditis

10.1534/genetics.104.035329

Cite

Citations (48)

Structure and organization of pig MHC class II DRB genes: evidence for genetic exchange between loci

Immunogenetics (1996)

Ulrica Brunsberg Inger Edfors‐Lilja Leif Andersson Kenth Gustafsson

Pseudogene

Intergenic region

10.1007/s002510050083

Cite