Dr. Agarwala and I continue a collaborations with the group of A.Shuldiner and B. Mitchell (U. Maryland Medical School) in development and usages of the Anabaptist Genealogy Database (AGDB)
During the past year, we completed a manuscript relating lifespan to number of children
and maternal age at last birth. This is submitted for publication.
I continue to collaborate with Dr. B. Grimbacher (U. Freiburg) and Dr. J. Puck (NHGRI)
to hunt genes for hyperIgE syndrome, common variable immune deficiency (CVID),
neutropenia, and other disorders related to the immune system.
During the past 12 months:
Dr. Grimbacher and I published one article showing that mutations in TNFRSF13B are
associated with common variable immunodeficiency.
Dr. Grimbacher and I prepared two more manuscripts on linkage results for
common variable immunodeficiency.
Dr. Grimbacher identified mutations in two genes that cause different forms
of syndromic neutropenia
Dr. Puck and I studied analyzed some genes that are good candidates to modify the
severity of the ALPS phenotype, and prepared two manuscripts on this topic.
I continue to collaborate with P. Henthorn (U. Penn) and J. Fyfe (Michigan
State) on a linkage study of a large canine pedigree that has multiple
occurrences of three autosomal recessive traits. During the
past 12 months, we prepared a manuscript, subsequently
published in Blood on mutations in the AMN gene occuring in two
dog pedigrees with vitamin B12 malabsorption. My collaboration with Dr. Fyfe
was expanded and coalesced with the cat map work described below
to also include genetic studies of a cat pedigree with numerous
cases of spinal muscular atrophy. During the past year, we found genetic
linkage and the causative gene. A manuscript is in preparation.
Dr. Agarwala I continue to collaborate with M. Mennoti-Raymond(NCI) and W. J. Murphy
(was at NCI, moved to Texas A&M) on construction of maps for use in genetics. In the past 12
months we publishd the first radiation hybrid map of rhesus macaque.
My collaboration with Dr. Mennoti-Raymond also included hunting various genes of
interest in cats using the previously built maps. During the past year, we:
found genetic linkage and the gene for a cat form of spinal muscular atrophy,
found gentic linkage for a cat form of retinal atrophy,
found genetic linkage for three different coat color traits,
and
began builidng a denser genetic map of the cat
The mapping work with Dr. Agarwala was expanded to include a collaboration with
Prof. B. P. Chwodhary (Texas A &M) on building dense maps of the horse. So far,
we have computed maps of for 4 sets of markers corresponding to 4 different
human chromosomes. The first set of maps for the horse chromosomes corresponding to
HSA19 is accepted for publication in Mammalian Genome. The second set of maps for
the horse chromosomes corresponding to HSA2 is submitted for publication.
Dr. Desper and I completed our collaboration with the group of Dr. Thomas Ried (NCI) on two
problems in modeling aneuploidy in cancer cells. For a problem concerning
modeling of possible mitotic advantage conferred by a genomic mutation, we
published a paper in Mathematical Biosciences.
During the past year, I analyzed genome scan genotype
data for two new large Parkinson's pedigrees in collaboration with Dr. Robert Nussbaum (NHGRI)
and Dr. Andy Singleton(NIA) . One pedigree shows dominant inheritance and has mutation in lRRK2
for which we published a paper in Annals of Neurology. The other pedigree is
still under investigation.
Public Health Relevance Statement
Data not available.
NIH Spending Category
No NIH Spending Category available.
Project Terms
Parkinson's diseaseaneuploidyanimal genetic material taganimal population geneticsautosomal recessive traitbiotechnologycatsclinical researchcomparative genomic hybridizationdogsfamily geneticsgene mutationgenetic susceptibilityglaucomahorseshuman genetic material taghuman subjectimmune systemimmunodeficiencyimmunogeneticslinkage mappingmicroarray technologyneoplasm /cancer geneticsneutropeniaprogressive spinal muscular atrophyvitamin B12 deficiency
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