Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene

Human Genetics

Volumn 106, Issue 1, 2000, Pages 125-126

  Chen, Jian Min ^a   Ferec, Claude ^a  

^a BREST UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANION; ISOLEUCINE; TRYPSINOGEN;

ARTICLE; GENE CONVERSION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PANCREATITIS; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATTLE; DOGS; EVOLUTION, MOLECULAR; GENE CONVERSION; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION, MISSENSE; PANCREATITIS; RATS; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; SWINE; TRYPSIN; TRYPSINOGEN; XENOPUS;

VERTEBRATA;

EID: 0034062222     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051019     Document Type: Article

References (9)

1. Chen JM, Ferec C (2000) On the genes, cloned cDNAs, and proteins of human trypsinogens and pancreatitis-associated cationic trypsinogen mutations. Pancreas (in press)
2. Chen JM, Mercier B, Ferec C (2000) Strong evidence that the N21I substitution in the cationic trypsinogen gene causes disease in hereditary pancreatitis. Gut (in press)
3. Collier S, Tassabehji M, Sinnott P, Strachan T (1993) A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome. Nat Genet 3:260-265
4. Giordano M, Marchetti C, Chiorboli E, Bona G, Momigliano Richiardi P (1997) Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. Hum Genet 100:249-255
5. Keim V, Albrecht H, Thorsten K, Niels T, Joachim M (1999) Trypsinogen variant N21I in hereditary pancreatitis is characterized by a higher stability in acidic environment but not by increased resistance to autolysis. Gastroenterology 116:A1137
6. Lokki ML, Circolo A, Ahokas P, Rupert KL, Yu CY, Colten HR (1999) Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes. J Immunol 1999 162:3687-3693
7. Patrinos GP, Kollia P, Loutradi-Anagnostou A, Loukopoulos D, Papadakis MN (1998) The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C->T] results from two independent gene conversion events. Hum Genet 102:629-634
8. Roach JC, Wang K, Gan L, Hood L (1997) The molecular evolution of the vertebrate trypsinogens. J Mol Evol 45:640-652
9. Rowen L, Koop BF, Hood L (1996) The complete 685-kilobase DNA sequence of the human β T cell receptor locus. Science 272: 1755-1762