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Organization of the Mouse and Human Carbonic Anhydrase II Genes a
Author(s) -
VENTA PATRICK J.,
MONTGOMERY JEFFRY C.,
WIEBAUER KARIN,
HEWETTEMMETT DAVID,
TASHIAN RICHARD E.
Publication year - 1984
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1984.tb12355.x
Subject(s) - medical school , library science , gerontology , medicine , medical education , computer science
The carbonic anhydrase (CA) multigene family is beginning to appear more complex than was considered possible during the earlier days of work on the different isozymes. The two classic erythrocyte isozymes found in amniotes, CA I and CA 11, have been studied in considerable detail in terms of their kinetics, structures, and Within the last few years, at least one other isozyme (CA 111), which is coded by a separate locus, has been shown to exist.7 In addition, membrane-bound carbonic anhydrases in brain,8 l ~ n g , ~ J ~ and kidney,"J2 and a soluble CA in m i t ~ c h o n d r i a ' ~ ~ ' ~ have been characterized and may be the products of loci distinct from the genes coding for the CA I, CA 11, and CA 111 isozymes. However, assignment of these CA isozymes to their respective loci has been a difficult task, complicated by the possibility that two or more genes can code for an identical protein product, as has been shown for human a g l ~ b i n ' ~ and human placental lactogen,I6 or that one gene can code for different protein products, as in the case of the human calcitonin gene.I7J8 Clearly, determination of the number of expressed (as well as unexpressed) genes will require work at the DNA and RNA level. The linkage relationships among the members of the CA multigene family are only partially known. In mice, the loci for CA I and CA I1 are tightly linked near the centromere of chromosome 3;19 in humans, the CA I1 gene is present on chromosome 8.20 The location of the human CA I gene is not yet known. However, additional linkage data from work on pigtail macaques2' and guinea pigs22 support the notion that CA I and CA I1 are linked in all mammals. No data are presently available concerning the location of the CA I11 gene in any species. If all the CA isozyme genes are indeed linked, they may constitute a complex regulatory system, the study of which could lead to insights into various levels of eukaryotic gene regulation. Deficiencies of erythrocyte CA I and CA I1 have been found in humans. An inherited deficiency of CA I has been described in three members of a Greek family who, despite a virtually complete absence of the enzyme in erythrocytes,