Biology Reference
In-Depth Information
homologue of exon 1 (and adjacent promoter) of the human gene (Rotwein and
Hall, 1990). The absence of this cassette from murine
Igf2
mRNA may account for
the disappearance of
Igf2
transcripts from most murine tissues shortly after birth.
The presence of pseudoexons in a number of human genes has thus provided
good evidence for the occurrence of exon inactivation (and hence also intron loss)
during mammalian evolution. Such events are certainly compatible with the
introns early theory. It is however unclear how common pseudoexons are in
human genes since they will usually only be detected through the careful com-
parison of orthologous gene pairs, a procedure that will tend to underestimate
their prevalence.
References
Adham N., Kao H.T., Schecter L.E., Bard J., Olsen M., Urquhart D., Durkin M., Hartig P.R.,
Weinshank R.L., Branchek T.A.
(1993) Cloning of another human serotonin receptor (5-HT1F):
a fifth 5-HT1 receptor subtype coupled to the inhibition of adenylate cyclase.
Proc. Natl. Acad. Sci.
USA
90
: 408-412.
Ala-Kokko L., Kvist A.P., Metsaranta M., Kivirikko K.I., de Crombrugghe B., Prockop D.J.,
Vuorio E.
(1995) Conservation of the sizes of 53 introns and over 100 intronic sequences for the
binding of common transcription factors in the human and mouse genes for type II procollagen
(
COL2A1
).
Biochem. J
.
308
: 923-929.
Alder H., Yoshinouchi M, Prystowsky MB, Appasamy P, Baserga R.
(1992) A conserved region in
intron 1 negatively regulates the expression of the
PCNA
gene.
Nucleic Acids Res
.
20
: 1769-1765.
Altruda F., Poli V., Restagno G., Silengo L.
(1988) Structure of the human hemopexin gene and
evidence for intron-mediated evolution.
J. Mol. Evol
.
27
: 102-108.
Antoniou M., Geraghty F., Hurst J., Grosveld F.
(1998) Efficient 3
-end formation of human β -
globin mRNA
in vivo
requires sequences within the last intron but occurs independently of the
splicing reaction.
Nucleic Acids Res
.
26
: 721-729.
Atanasoki S., Toldo S.S., Malipiero U., Schreiber E., Fries R., Fontana A.
(1995) Isolation of the
human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16.
Genomics
26
: 272-280.
Ayyanathan K., Naylor S.L., Kunapuli S.P.
(1996) Structural characterization and fine
chromosomal mapping of the human P2Y1 purinergic receptor gene (
P2RY1
).
Somat. Cell Molec.
Genet
.
22
: 419-424.
Beier F., Vornehm S., Poschl E., von der Mark K., Lammi M.J.
(1997) Localization of silencer and
enhancer elements in the human type X collagen gene.
J. Cell. Biochem
.
66
: 210-218.
Belfort M.
(1993) An expanding universe of introns.
Science
262
: 1009-1010.
Berchtold M.W., Koller M., Egli R., Rhyner J.A., Hameister H., Strehler E.E.
(1993) Localization
of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter.
Hum. Genet
.
90
: 496-500.
Berg L.-P., Soria J.M., Formstone C.J., Morell M., Kakkar V.V., Estivill X., Sala N., Cooper D.N.
(1996) Aberrant RNA splicing of the protein C and protein S genes in healthy individuals.
Blood
Coag. Fibrinol
.
7
: 625-631.
Blake C.C.F
. (1978) Do genes-in-pieces imply proteins-in-pieces?
Nature
273
: 267.
Blumenfeld O.O., Huang C.-H.
(1995) Molecular genetics of the glycophorin gene family, the
antigens for the MNSs blood groups: multiple gene rearrangements and modulation of splice site
usage result in extensive diversification.
Hum. Mutation
6
: 199-209.
Bork P.
(1993) Hundreds of ankyrin-like repeats in functionally diverse proteins: mobile modules
that cross phyla horizontally?
Proteins Struct. Funct. Genet
.
17
: 363-374.
Bork P., Sander C., Valencia A.
(1992) An ATPase domain common to prokaryotic cell cycle
proteins, sugar kinases, actin, and hsp70 heat shock proteins.
Proc. Natl. Acad. Sci. USA
89
: 7290-7294.
