To: kissi@XXXX
Subject: FlyBase query
From: Gillian Millburn (Genetics) <gm119@XXXX>
Date: Tue, 16 Jul 2002  11:41:57  \+0100
Dear Dr. Kiss,
I am curating a paper for FlyBase:
Mason et al., 2002, Genetics 161(1): 157--170
in which they report a personal communication from you which indicates
that phenotypes previously attributed to the importin-alpha2 gene
Pendulin are in fact due to a second site mutation.
On page 161 they state:
Two early studies reported that flies homozygous for a null allele of
the importin 2 gene (oho-31) die during development while exhibiting an
overgrowth of hematopoietic tissues (KUSSEL and FRASCH 1995 ; TOROK et
al. 1995 ). However, these phenotypes were subsequently found to be due
to a second site mutation (I. KISS, personal communication).
The mutant line they are talking about is 'l(2)k14401'.
( <up></up> = superscript)
As a consequence of this, I am in the process of splitting out the
'oho31' phenotype of the 'l(2)k14401' line into a separate gene from
Pendulin in FlyBase. There will end up being two separate genes \-
Pendulin and oho31. The l(2)k14401 line will end up with 2 alleles
associated with it \- 'Penk14401a' (associated with the insertion in
the 5' end of Pendulin) and 'oho31k14401b'.
I am trying to partition the phenotypic information we currently have
under 'l(2)k14401' into the correct allele records.
>From what they say in the Mason Genetics paper, the lethality and
overgrown hematopoietic tissue phenotypes should end up under
'oho31k14401b' and not under 'Penk14401a'.
1. In your paper:
Torok et al., 1995, J. Cell Biol. 129(6): 1473--1489
there are a number of other phenotypes mentioned for the 'l(2)k14401'
line. They are:
\- overgrowth of gonads.
\- testes filled with small single cells, lacking spermatogonial cysts.
\- most imaginal discs reduced in size, and abnormal in shape and
folding pattern.
\- genital discs larger than normal
\- brain hemispheres smaller than normal, ventral ganglion often longer
than normal.
\- ring gland reduced in size.
For each of these phenotypes, I am not sure whether they are due to an
effect on Pen or oho31 i.e. do they belong under Penk14401a or
oho31k14401b \- do you know which phenotypes belong under which allele?
2. in the paper:
Kussel and Frasch, 1995, J. Cell Biol. 129(6): 1491--1507
they say that the 'l(2)k14401' line shows abnormal cell proliferation
in the central nervous system. Do you know whether this phenotype is
due to an effect on Pen or oho31 ?
3. in your paper:
Roch et al., 1998, Molec. gen. Genet. 257(2): 103--112
you mention a second line 'l(2)k14410' which is allelic to 'l(2)k14401'.
At the moment I have put the following comment in about this line:
FlyBase curator comment: it is not clear how many mutations or
P-element insertions are present in the 'l(2)k14410' line. The
lethality of 'l(2)k14410' is probably due to an effect on 'oho31' as
'l(2)k14410' fails to complement 'l(2)k14401' (FBrf0100624) (the
lethality of the l(2)k14401' line is due to an effect on 'oho31').
However, it is not known whether or not there is also a mutation in
'Pen' in the 'l(2)k14410' line; since 'l(2)k14401' and 'l(2)k14410' are
members of the same cluster (FBrf0100624), it is possible that
'l(2)k14410' contains a P-element insertion in 'Pen' (similar to the
situation in 'l(2)k14401'). At present 2 alleles associated with the
'l(2)k14410' line have been made to accommodate the uncertainty and the
phenotypes of this line \- 'Penk14410a' and 'oho31k14410b'. It is
not known whether either (or both) of these (potential) alleles are
associated with a P-element.
(FBrf0100624 = Roch et al., 1998, Molec. gen. Genet. 257(2): 103--112)
Do you have any information about this line which might help clear up
whether or not this line has a mutation in Pen or oho31 or both, and
whether or not any alleles are associated with a P-element ?
Any information you give me about these lines would be curated as a
personal communication to FlyBase, so that users can see how we knew
the information,
thanks,
Gillian
\--------------------------------------------------------------
Gillian Millburn.
FlyBase (Cambridge),
Department of Genetics,
University of Cambridge,
Downing Street, email: gm119@XXXX
Cambridge, CB2 3EH, Ph : 01223-333963
UK. FAX: 01223-333992
\--------------------------------------------------------------
From Kissi@XXXX Wed Jul 17  10:08:04  2002
Delivery-date: Wed, 17 Jul 2002  10:08:04  \+0100
To: Gillian Millburn (Genetics) <gm119@XXXX>
Date: Wed, 17 Jul 2002  11:05:51  \+0200
Subject: Re: FlyBase query
Dear Gillian,
Thank you for your letter and the curation of this complicated package
of information. I can say the following:
1./ In l(2)k14401 homozygotes, in addition to the overgrowth of
haematopoietic organs, all the other phenotypes (larval gonad
overgrowth, etc., Torok et al., 1995) belong to the background mutation
responsible for the lethality, and none of them is caused by the P
insertion in the importin-alpha2 gene.
2./ 'Abnormal cell proliferation in CNS' (Kussel and Frasch, 1995) is
the same as mentioned also in Torok et al., 1995, and also belong to
the oho-31 background mutation.
In fact, we removed this lethality from the l(2)k14401 chromosome by
genetic recombination, and the remaining P insertion had no
homozygous phenotype at all. We also generated (Torok et al., 1995)
intragenic deletions, null alleles, in the importin-alpha2 (Pen) gene by
remobilizing the P insertion, and the homozygotes are again viable and
normal, except for the complete female and almost complete male
sterility.
3./ As regards l(2)k14410, it does not complement l(2)k14401 lethality
hence sharing the same oho-31 background lethal mutation. However,
it has one P insertion in 54B and none in 31A, in the importin-alpha2
gene. As 14410 and 14401 probably belong to the same cluster, it is
still possible that 14410 had the P insertion in 31A earlier but lost it
later. Whether the importin-alpha2 gene has any mutation left behind
by the hypothetical P loss or the new insertion at 54B has any effect,
was not tested. Please, quote this piece of information as 'Erika Viragh and
Tamas Szlanka, personal communication'.
I hope this may help you. Please, write again in any case of
uncertainty.
With regards,
Istvan