Genetic Loci

Publication Title: 
Plant Physiology

Root-knot nematode (RKN) Meloidogyne species are major polyphagous pests of most crops worldwide, and cultivars with durable resistance are urgently needed because of nematicide bans. The Ma gene from the Myrobalan plum (Prunus cerasifera) confers complete-spectrum, heat-stable, and high-level resistance to RKN, which is remarkable in comparison with the Mi-1 gene from tomato (Solanum lycopersicum), the sole RKN resistance gene cloned. We report here the positional cloning and the functional validation of the Ma locus present at the heterozygous state in the P.2175 accession.

Author(s): 
Claverie, Michel
Dirlewanger, Elisabeth
Bosselut, Nathalie
Van Ghelder, Cyril
Voisin, Roger
Kleinhentz, Marc
Lafargue, Bernard
Abad, Pierre
Rosso, Marie-Noëlle
Chalhoub, Boulos
Esmenjaud, Daniel
Publication Title: 
PloS One

BACKGROUND: Human lifespan is approximately 25% heritable, and genetic factors may be particularly important for achieving exceptional longevity. Accordingly, siblings of centenarians have a dramatically higher probability of reaching extreme old age than the general population. METHODOLOGY/PRINCIPAL FINDINGS: To map the loci conferring a survival advantage, we performed the second genomewide linkage scan on human longevity and the first using a high-density marker panel of single nucleotide polymorphisms.

Author(s): 
Boyden, Steven E.
Kunkel, Louis M.
Publication Title: 
PloS One

BACKGROUND: Although there is abundant evidence that human longevity is heritable, efforts to map loci responsible for variation in human lifespan have had limited success. METHODOLOGY/PRINCIPAL FINDINGS: We identified individuals from a large multigenerational population database (the Utah Population Database) who exhibited high levels of both familial longevity and individual longevity. This selection identified 325 related "affected individuals", defined as those in the top quartile for both excess longevity (EL?

Author(s): 
Kerber, Richard A.
O'Brien, Elizabeth
Boucher, Kenneth M.
Smith, Ken R.
Cawthon, Richard M.
Publication Title: 
PloS One

BACKGROUND: Although there is abundant evidence that human longevity is heritable, efforts to map loci responsible for variation in human lifespan have had limited success. METHODOLOGY/PRINCIPAL FINDINGS: We identified individuals from a large multigenerational population database (the Utah Population Database) who exhibited high levels of both familial longevity and individual longevity. This selection identified 325 related "affected individuals", defined as those in the top quartile for both excess longevity (EL?

Author(s): 
Kerber, Richard A.
O'Brien, Elizabeth
Boucher, Kenneth M.
Smith, Ken R.
Cawthon, Richard M.
Publication Title: 
Aging Cell

Clear evidence exists for heritability of human longevity, and much interest is focused on identifying genes associated with longer lives. To identify such longevity alleles, we performed the largest genome-wide linkage scan thus far reported. Linkage analyses included 2118 nonagenarian Caucasian sibling pairs that have been enrolled in 15 study centers of 11 European countries as part of the Genetics of Healthy Aging (GEHA) project.

Author(s): 
Beekman, Marian
BlanchÈ, HÈlËne
Perola, Markus
Hervonen, Anti
Bezrukov, Vladyslav
Sikora, Ewa
Flachsbart, Friederike
Christiansen, Lene
de Craen, Anton J. M.
Kirkwood, Tom B. L.
Rea, Irene Maeve
Poulain, Michel
Robine, Jean-Marie
Valensin, Silvana
Stazi, Maria Antonietta
Passarino, Giuseppe
Deiana, Luca
Gonos, Efstathios S.
Paternoster, Lavinia
S¯rensen, Thorkild I. A.
Tan, Qihua
Helmer, Quinta
van den Akker, Erik B.
Deelen, Joris
Martella, Francesca
Cordell, Heather J.
Ayers, Kristin L.
Vaupel, James W.
Tˆrnwall, Outi
Johnson, Thomas E.
Schreiber, Stefan
Lathrop, Mark
Skytthe, Axel
Westendorp, Rudi G. J.
Christensen, Kaare
Gampe, Jutta
Nebel, Almut
Houwing-Duistermaat, Jeanine J.
Slagboom, Pieternella Eline
Franceschi, Claudio
GEHA consortium
Publication Title: 
Journal of Human Genetics

Bivariate survival models with discretely distributed frailty based on the major gene concept and applied to the data on related individuals such as twins and sibs can be used to estimate the underlying hazard, the relative risk and the frequency of the longevity allele. To determine the position of the longevity gene, additional genetic markers data are needed. If the action of the longevity allele does not depend on its position in the genome, these two problems can be solved separately using a two-step procedure.

Author(s): 
Begun, Alexander
Publication Title: 
PloS One

The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease.

Author(s): 
Tang, Clara Sze-Man
Tang, Wai-Kiu
So, Man-Ting
Miao, Xiao-Ping
Leung, Brian Man-Chun
Yip, Benjamin Hon-Kei
Leon, Thomas Yuk-Yu
Ngan, Elly Sau-Wai
Lui, Vincent Chi-Hang
Chen, Yan
Chan, Ivy Hau-Yee
Chung, Patrick Ho-Yu
Liu, Xue-Lai
Wu, Xuan-Zhao
Wong, Kenneth Kak-Yuen
Sham, Pak-Chung
Cherny, Stacey S.
Tam, Paul Kwong-Hang
Garcia-BarcelÛ, Maria-MercË
Publication Title: 
Epigenetics

IGF2 is a paternally expressed imprinted gene with an important role in development and brain function. Allele-specific expression of IGF2 is regulated by DNA methylation at three differentially methylated regions (DMRs) spanning the IGF2/H19 domain on human 11p15.5. We have comprehensively assessed DNA methylation and genotype across the three DMRs and the H19 promoter using tissue from a unique collection of well-characterized and neuropathologically-dissected post-mortem human cerebellum samples (n = 106) and frontal cortex samples (n = 51).

Author(s): 
Pidsley, Ruth
Dempster, Emma
Troakes, Claire
Al-Sarraj, Safa
Mill, Jonathan
Publication Title: 
Molecular Brain

BACKGROUND: Insulin-like growth factor 2 (Igf2) is a paternally expressed imprinted gene regulating fetal growth, playing an integral role in the development of many tissues including the brain. The parent-of-origin specific expression of Igf2 is largely controlled by allele-specific DNA methylation at CTCF-binding sites in the imprinting control region (ICR), located immediately upstream of the neighboring H19 gene. Previously we reported evidence of a negative correlation between DNA methylation in this region and cerebellum weight in humans.

Author(s): 
Pidsley, Ruth
Fernandes, Cathy
Viana, Joana
Paya-Cano, Jose L.
Liu, Lin
Smith, Rebecca G.
Schalkwyk, Leonard C.
Mill, Jonathan
Publication Title: 
Molecular Psychiatry

Postpartum depression (PPD) affects ?10-18% of women in the general population and results in serious consequences to both the mother and offspring. We hypothesized that predisposition to PPD risk is due to an altered sensitivity to estrogen-mediated epigenetic changes that act in a cell autonomous manner detectable in the blood. We investigated estrogen-mediated epigenetic reprogramming events in the hippocampus and risk to PPD using a cross-species translational design.

Author(s): 
Guintivano, J.
Arad, M.
Gould, T. D.
Payne, J. L.
Kaminsky, Z. A.

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