Chromosomal localization of the Huntingtin Associated Protein (HAP-1) gene in mouse and humans with radiation hybrid and interspecific backcross mapping

@article{Nasir1999ChromosomalLO,
  title={Chromosomal localization of the Huntingtin Associated Protein (HAP-1) gene in mouse and humans with radiation hybrid and interspecific backcross mapping},
  author={Jamal Nasir and Alyssa Maclean and Simone Engelender and K. Duan and Russell L. Margolis and John J. Kleiderlein and Christopher A. Ross and Michael R. Hayden},
  journal={Mammalian Genome},
  year={1999},
  volume={10},
  pages={397-398}
}
The Huntingtin Associated protein, HAP-1, is predominantly expressed in the brain, where it interacts with huntingtin, the protein product of the Huntington’s disease gene (Li et al. 1995). Its predominantly neuronal expression pattern in rat, mouse, human, and primates, together with its increased affinity for mutant huntingtin suggests that HAP-1 may play an important role in the pathogenesis of Huntington’s disease (Li et al. 1995, 1996, 1998; Page et al. 1998). In the mouse, HAP-1 is also… 
Assignment1 of the huntingtin (Hdh) gene, the huntingtin associated protein (Hap1) gene, and the huntingtin interacting protein (Hip1) gene to rat chromosomes 14, 10, and 12 by radiation hybrid mapping and fluorescent in situ hybridization
TLDR
Animal models, especially the rat and mouse, have been used for further elucidation of the molecular mechanisms underlying Huntington’s disease development and progression.
A C. elegans Homolog of Huntingtin-Associated Protein 1 is Expressed in Chemosensory Neurons and in a Number of Other Somatic Cell Types
TLDR
It is found that T27A3.1.1 is expressed in many cell types including a subset of chemosensory neurons in the head and tail, and the CAN neurons that are required for worm survival.
Huntingtin-associated protein 1 (Hap1) mutant mice bypassing the early postnatal lethality are neuroanatomically normal and fertile but display growth retardation.
TLDR
It is shown that Hap1 null mutants display suckling defects and die within the first days after birth due to starvation, and it is demonstrated that the early lethality can be rescued if Hap 1 expression is restored in neuronal cells before birth.
Selective Expression of Huntingtin-associated Protein 1 in β-Cells of the Rat Pancreatic Islets
TLDR
It is demonstrated that HAP1 is selectively expressed in β-cells of rat pancreatic islets, suggesting the involvement of H AP1 in the regulation of cellular trafficking and secretion of insulin.
DDH328 3115..3125
  • 2004

References

SHOWING 1-10 OF 18 REFERENCES
Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1
TLDR
A 21,984 base pair genomic clone encompassing the entire Hap1 gene, which can be formed by alternative splicing at the 3′ end of the gene leading to protein isoforms with novel C-termini, is sequenced.
The expression of Huntingtin‐associated protein (HAP1) mRNA in developing, adult and ageing rat CNS: implications for Huntington's disease neuropathology
TLDR
The lowest levels of HAP1 mRNA expression corresponded with the areas of greatest pathological cell loss in Huntington's disease (HD); the caudate putamen, globus pallidus and neocortex.
A Human HAP1 Homologue
TLDR
Cloning of a human HAP1 homologue (hHAP) that shares 62% identity with rat H AP1 over its entire sequence and 82% amino acid identity in the putative huntingtin-binding region is reported, confirming the interaction of hHAP with huntingtin.
A huntingtin-associated protein enriched in brain with implications for pathology
TLDR
The identification of a protein (huntingtin-associated protein (HAP)-l) that binds to huntingtin is reported, enhanced by an expanded polyglutamine repeat, the length of which is also known to correlate with the age of disease onset19–21.
Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase.
TLDR
In situ hybridization studies reveal a resemblance of HAP1 and neuronal nitric oxide synthase (nNOS) mRNA localizations with dramatic enrichment of both in the pedunculopontine nuclei, the accessory olfactory bulb, and the supraoptic nucleus of the hypothalamus, and suggests a role of NO in Huntington disease, analogous to its postulated role in Duchenne muscular dystrophy.
Mouse mutant embryos lacking huntingtin are rescued from lethality by wild-type extraembryonic tissues.
TLDR
It is hypothesize that this protein is involved in the intracellular trafficking of nutrients in early embryos, and likely results in impairment of the nutritive functions of the visceral endoderm, which otherwise appears to differentiate normally.
An STS-Based Map of the Human Genome
TLDR
A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing of 199 kilobases, anchored by the radiation hybrid and genetic maps.
Progressive supranuclear gaze palsy is in linkage disequilibrium with theτ and not the α-synuclein gene
TLDR
There is a lack of evidence to support linkage disequilibrium between PSP and the SNCA candidate Parkinson's disease gene on chromosome 4q21-q23.
Tau Protein Mutations Confirmed as Neuron Killers
TLDR
Researchers hope that they will be able to piece together how tau abnormalities lead to brain cell degeneration and perhaps how that degeneration might be prevented.
...
...