The presenilin genes: a new gene family involved in Alzheimer disease pathology

Cruts, Marc; Hendriks, Lydia; Van Broeckhoven, Christine

doi:10.1093/hmg/5.supplement_1.1449

Cited by 163Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

The presenilin genes: a new gene family involved in Alzheimer disease pathology

Cruts, Marc, Hendriks, Lydia, Van Broeckhoven, Christine·1996·Human Molecular Genetics

DOI 10.1093/hmg/5.supplement_1.1449

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Abstract

A positional cloning approach has led to the identification of two closely related genes, the presenilins (PS), for autosomal dominant presenile Alzheimer disease (AD): PS-1 at 14q24.3 and PS-2 at 1q31-q42. The PS-1 gene was identified by direct cDNA selection of yeast artificial chromosomes containing the candidate chromosomal region. Subsequently, the PS-2 gene was identified due to its high sequence homology with PS-1 and its location within the candidate region defined by linkage studies. To date, 30 different missense mutations and one in-frame splice site mutation were described in PS-1, while only two missense mutations were detected in PS-2, suggesting that PS-1 mutations are more frequently involved in familial presenile AD. The PS transcripts encode novel proteins that resemble integral transmembrane proteins of roughly 450 amino acids and at least seven transmembrane domains. The genomic organization of the PS genes is very similar showing that full length PS-1 and PS-2 are encoded by 10 exons. However, different alternative splicing patterns have been observed for PS-1 and PS-2 indicating that the corresponding proteins (ps-1 and ps-2) may have similar but not identical biological functions.

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“The other EOAD-causative genes are highly homologous members of the presenilin gene family (Cruts et al., 1996).”
Background
Interaction of Presenilins with the Filamin Family of Actin-Binding Proteins
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Preferential occurrence of chromosome 21 malsegregation in peripheral blood lymphocytes of Alzheimer disease patients
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Increased Apoptosis Arising from Increased Expression of the Alzheimer's Disease–associated Presenilin-2 Mutation (N141I)
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Genetic Mechanisms of Coffee Extract Protection in aCaenorhabditis elegansModel of β-Amyloid Peptide Toxicity
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Overexpression in Neurons of Human Presenilin-1 or a Presenilin-1 Familial Alzheimer Disease Mutant Does Not Enhance Apoptosis
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Increased Aβ42(43) from cell lines expressing presenilin 1 mutations
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Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer's disease
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Characterization of the Gene Cassette Required for Biosynthesis of the (α1→6)-Linked N -Acetyl- d -Mannosamine-1-Phosphate Capsule of Serogroup A Neisseria meningitidis
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A Pathogenic Presenilin-1 Deletion Causes Abberrant Aβ42 Production in the Absence of Congophilic Amyloid Plaques
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Aβ-oligomers: A potential therapeutic target for Alzheimer's disease
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A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease
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Melatonin regulates the transcription of βAPP‐cleaving secretases mediated through melatonin receptors in human neuroblastoma SH‐SY5Y cells
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Spontaneous and induced chromosome damage in somatic cells of sporadic and familial Alzheimer's disease patients
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Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
Poorkaj, P., Sharma, V., Anderson, L., Nemens, E. J., Alonso, M. E., Orr, H. T., White, J. A., Heston, L. L., Bird, T. D., & Schellenberg, G. D. (1998) · Human Mutation · doi:10.1002/(sici)1098-1004(1998)11:3 · Cited by 60 · see citing works
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Retention of the Alzheimer's Amyloid Precursor Fragment C99 in the Endoplasmic Reticulum Prevents Formation of Amyloid β-Peptide
Maltese, W. A., Wilson, S. E., Tan, Y., Suomensaari, S., Sinha, S., Barbour, R., & McConlogue, L. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m007238200 · Cited by 60 · see citing works
Genetics of Early-Onset Alzheimer Dementia
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Identification of caspases that cleave presenilin‐1 and presenilin‐2
de Craen, M. V., Jonghe, C. D., den Brande, I. V., Declercq, W., Gassen, G. V., Criekinge, W. V., Vanderhoeven, I., Fiers, W., Broeckhoven, C. V., Hendriks, L., et al. (1999) · FEBS Letters · doi:10.1016/s0014-5793(99)00108-8 · Cited by 56 · see citing works
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Biomarkers for dementia in Latin American countries: Gaps and opportunities
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Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucineright-arrowserine (L250S) substitution at codon 250 of the presenilin 1 gene
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Neuropathology of Depression in Alzheimer's Disease: Current Knowledge and the Potential for New Treatments
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Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)
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A unique gene expression signature discriminates familial Alzheimer's disease mutation carriers from their wild-type siblings
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Polygenic Risk for Alzheimer's Disease is not Associated with Cognitive Ability or Cognitive Aging in Non-Demented Older People
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Upregulation of PGC ‐1α expression by A lzheimer's disease‐associated pathway: presenilin 1/amyloid precursor protein ( APP )/intracellular domain of APP
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Quantitative Characterization of Cellular Membrane-Receptor Heterogeneity through Statistical and Computational Modeling
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A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures
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Homodimerization of presenilin N‐terminal fragments is affected by mutations linked to Alzheimer's disease
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Role of the JNK-interacting protein 1/islet brain 1 in cell degeneration in Alzheimer disease and diabetes.
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Genes and susceptible loci of Alzheimer’s disease
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Decreased Levels of Amyloid-β 1-42 in Cerebrospinal Fluid of Creutzfeldt–Jakob Disease Patients
Everbroeck, B. V., Green, A. J. E., Pals, P., Martin, J. J., & Cras, P. P. (1999) · Journal of Alzheimer s Disease · doi:10.3233/jad-1999-1606 · Cited by 46 · see citing works
Judging a Protein by More Than Its Name: GSK-3
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Premature centromere division of the X chromosome in neurons in Alzheimer’s disease
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Latest emerging functions of SPP/SPPL intramembrane proteases
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Biomarker-Based Precision Therapy for Alzheimer’s Disease: Multidimensional Evidence Leading a New Breakthrough in Personalized Medicine
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An Upstream Element Containing an ETS Binding Site Is Crucial for Transcription of the Human Presenilin-1 Gene
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Early‐onset Alzheimer's disease with a presenilin‐1 mutation at the site corresponding to the volga German presenilin‐2 mutation
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Neuroinflammatory Cytokines - The Common Thread in Alzheimer Pathogenesis
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Analysis of premature centromere division (PCD) of the X chromosome in Alzheimer patients through the cell cycle
Spremo‐Potparević, B., Živković, L., Djelić, N., & Bajić, V. (2004) · Experimental Gerontology · doi:10.1016/j.exger.2004.01.012 · Cited by 38 · see citing works
Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome
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A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease
Forsell, C., Froelich, S., Axelman, K., Vestling, M., Cowburn, R. F., Lilius, L., Johnston, J. A., Engvall, B., Johansson, K., Dahlkild, Å., et al. (1997) · Neuroscience Letters · doi:10.1016/s0304-3940(97)00603-4 · Cited by 36 · see citing works
Transcriptional and epigenetic phenomena in peripheral blood cells of monozygotic twins discordant for alzheimer’s disease, a case report
D’Addario, C., Candia, S. B., Arosio, B., Bartolomeo, M. D., Abbate, C., Casè, A., Candeletti, S., Romualdi, P., Damanti, S., Maccarrone, M., et al. (2016) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2016.11.052 · Cited by 35 · see citing works
Physical and genetic interaction of filamin with presenilin in Drosophila
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The Mitochondrial Secret(ase) of Alzheimer's Disease
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Posttranslational Modification and Plasma Membrane Localization of the Drosophila melanogaster Presenilin
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Presenilin 1 Met146Leu variant due to an A&T transversion in an early‐onset familial Alzheimer's disease pedigree from Argentina
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Processing of presenilin 1 in brains of patients with Alzheimerʼs disease and controls
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The Role of the Amyloid Protein Precursor (APP) in Alzheimer's Disease: Does the Normal Function of APP Explain the Topography of Neurodegeneration?
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Different effects of Alzheimer-associated mutations of presenilin 1 on its processing
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Analysis of premature centromere division (PCD) of the chromosome 18 in peripheral blood lymphocytes in Alzheimer disease patients
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Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease
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The genotype 2/2 of the presenilin-1 polymorphism is decreased in Spanish early-onset Alzheimer's disease
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Immunoreactivity of Presenilin-1 and Tau in Alzheimer's Disease Brain
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Alzheimer’s Disease: Challenges and a Therapeutic Opportunity to Treat It with a Neurotrophic Compound
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Molecular chaperones and age-related degenerative disorders
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Twenty-nine missense mutations linked with familial Alzheimer's disease alter the processing of presenilin 1
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Autopsy-Confirmed Familial Early-Onset Alzheimer Disease Caused by the L153V Presenilin 1 Mutation
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Role of Genetics in Tests of Genotype, Status, and Disease Progression in Early-Onset Alzheimer’s Disease
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Signaling Functions of Intramembrane Aspartyl-Proteases
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Inflammation, antichymotrypsin, and lipid metabolism: autogenic etiology of alzheimer's disease
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Alzheimer’s Disease—A Panorama Glimpse
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Untitled work
(1998) · doi:10.1002/(sici)1098-1004(1998)11:6
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T/G polymorphism at intron 9 of presenilin 1 gene is associated with, but not responsible for sporadic late-onset Alzheimer's disease in Japanese population
Nishiwaki, Y., Kamino, K., Yoshiiwa, A., Sato, N., Tateishi, K., Takeda, M., Kobayashi, T., Yamamoto, H., Nonomura, Y., Yoneda, H., et al. (1997) · Neuroscience Letters · doi:10.1016/s0304-3940(97)00317-0 · Cited by 23 · see citing works
Presenilin 1 mutations influence processing and trafficking of the ApoE receptor apoER2
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Characterization of a 3xTg‐AD mouse model of Alzheimer's disease with the senescence accelerated mouse prone 8 (SAMP8) background
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A Nelson-Aalen Estimate of the Incidence Rates of Early-Onset Alzheimer's Disease Associated with the Presenilin-1 Gene
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Cloning ofXenopus presenilin-α and -β cDNAs and Their Differential Expression in Oogenesis and Embryogenesis
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MOLECULAR GENETICS OF ALZHEIMER'S DISEASE With special emphasis on presenilin, amyloid beta precursor protein and apolipoprotein E genes
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Lessons on Differential Neuronal-Death-Vulnerability from Familial Cases of Parkinson’s and Alzheimer’s Diseases
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Overview and Current Status of Alzheimer’s Disease in Bangladesh
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Molecular Genetics of Familial Alzheimer Disease
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Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
Poorkaj, P., Sharma, V., Anderson, L., Nemens, E. J., Alonso, M. E., Orr, H. T., White, J. A., Heston, L. L., Bird, T. D., & Schellenberg, G. D. (1998) · Human Mutation · doi:10.1002/(sici)1098-1004(1998)11:3 · Cited by 60 · see citing works
Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease
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Biology and genetics of the presenilin proteins associated with alzheimer disease
George‐Hyslop, P. S., Lévesque, G., Yu, G., Ikeda, M., Nishimura, M., Rogacva, E., Mori, H., Strooper, B. D., Haass, C., Selkoe, D. J., et al. (1997) · UCL Discovery (University College London) · Cited by 1 · see citing works
Two homologous genes associated with early onset familial Alzheimer's disease
George‐Hyslop, P. S., Rogaev, E. I., Sherrington, R. P., Rogaeva, E. A., Rogaeva, G., Lévesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., et al. (1996) · Biological Psychiatry · doi:10.1016/0006-3223(96)84160-6 · Cited by 1 · see citing works
Estimation of the genetic contribution of presenilin-1 and-2 mutations in a population-based study of
Disease, P. A., Cruts, M., van Duijn, C. M., Backhovens, H., den Broeck, M. V., Wehnert, A., Serneels, S., Sherrington, R. P., Hutton, M., Hardy, J., et al. (1997)
Self-citation

Authors: Cruts, M., Hendriks, L., & Van Broeckhoven, C.
Affiliations: University of Antwerp (BE)
ORCID: Cruts, Marc
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 1996-09
Volume: 5
Issue: Supplement_1
Pages: 1449-1455
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/5.supplement_1.1449
OpenAlex: W2121823413
Cited by: 163
References: 59
Citations by year: 2026: 1 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 1 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 5 · 2016: 2 · 2015: 4 · 2014: 6 · 2013: 7 · 2012: 1
FWCI: 4.66
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Keywords: presenilin 1, presenilin 2, familial Alzheimer's disease, positional cloning, missense mutations, splice site mutation, transmembrane proteins, alternative splicing, gene family, yeast artificial chromosomes, cDNA selection, linkage mapping
MeSH terms: Alzheimer Disease, Amino Acid Sequence, Animals, Cloning, Molecular, Humans, Membrane Proteins, Molecular Sequence Data, Mutation, Gene Expression, Sequence Homology, Amino Acid, Presenilin-1, Presenilin-2

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The presenilin genes: a new gene family involved in Alzheimer disease pathology

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