Getting rid of the PMS2 pseudogenes: Mission impossible? [1]

Human Mutation

Volumn 28, Issue 4, 2007, Pages 414-

  Niessen, Renée C ^a   Kleibeuker, Jan H ^a   Jager, Paul O J ^a   Sijmons, Rolf H ^a   Hofstra, Robert M W ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; PRIMER DNA; THYMINE;

EXON; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTRON; LETTER; MISSENSE MUTATION; PMS2 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATASES; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; EXONS; HUMANS; INTRONS; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; PSEUDOGENES; SEQUENCE ANALYSIS, DNA;

EID: 34047233361     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20447     Document Type: Letter

References (5)

1. Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Senter L, Sotamaa K, de la Chapelle A. 2006. Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 27:490-495.
2. De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT. 2004. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74:954-964.
3. Hayward BE, De Vos M, Sheridan E, Bonthron DT. 2004. PMS2 mutations in HNPCC. Clin Genet 66:566-567.
4. Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. 2004. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 64:4721-4727.
5. Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas L, Spigelman AD, Scott RJ. 2004. Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. Clin Genet 65:215-225.