دورية أكاديمية
أعرض في EDS

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.

التفاصيل البيبلوغرافية
العنوان: Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.
المؤلفون: Platonov FA; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Tyryshkin K; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, K7L 3N6, Canada., Tikhonov DG; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Neustroyeva TS; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Sivtseva TM; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Yakovleva NV; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Nikolaev VP; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Sidorova OG; Center for Integrated Medical Research, Academy of Medical Sciences, Yakutsk, 677010, The Russian Federation., Kononova SK; Center for Integrated Medical Research, Academy of Medical Sciences, Yakutsk, 677010, The Russian Federation., Goldfarb LG; National Institute of Neurological Disorder and Stoke, NIH, Bethesda, MD, 20892, USA. GoldfarbL@ninds.nih.gov., Renwick NM; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, K7L 3N6, Canada.
المصدر: Neurogenetics [Neurogenetics] 2016 Jul; Vol. 17 (3), pp. 179-85. Date of Electronic Publication: 2016 Apr 22.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural
اللغة: English
بيانات الدورية: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
أسماء مطبوعة: Publication: <2002->: [New York, N.Y.?] : Springer-Verlag
Original Publication: Oxford, UK : Oxford University Press, c1997-
مواضيع طبية MeSH: Genetic Fitness* , Selection, Genetic*, Ataxin-1/*genetics , Spinocerebellar Ataxias/*epidemiology , Spinocerebellar Ataxias/*genetics, Adult ; Aged ; Aged, 80 and over ; Birth Rate ; Cohort Studies ; Female ; Heterozygote ; Humans ; Incidence ; Male ; Middle Aged ; Mutation ; Siberia/epidemiology
مستخلص: Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = -0.81); most patients with low-medium (39-55) repeat numbers survived until the end of reproductive age. The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated at 1.6 CAG repeats. The fertility rates of heterozygous carriers of 39-55 CAG repeats in women were no different from those of the general Sakha population. Overall, the survival of mutation carriers through reproductive age, unaltered fertility rates, low childhood mortality in SCA1-affected families, and intergenerational transmission of increasing numbers of CAG repeats in the ATXN1 gene indicate that SCA1 in the Sakha population will be maintained at high prevalence levels. The low (0.19) Crow's index of total selection intensity in our SCA1 cohort implies that this mutation is unlikely to be eliminated through natural selection alone.
Competing Interests: The authors declare that they have no conflict of interest.
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معلومات مُعتمدة: Z01 NS002973-10 United States Intramural NIH HHS
فهرسة مساهمة: Keywords: ATXN1 gene; Crow’s index; Genetic fitness; Northeast Siberia; Sakha (Yakut) population; Spinocerebellar ataxia type 1
المشرفين على المادة: 0 (ATXN1 protein, human)
0 (Ataxin-1)
تواريخ الأحداث: Date Created: 20160424 Date Completed: 20180209 Latest Revision: 20191008
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC5262524
DOI: 10.1007/s10048-016-0481-5
PMID: 27106293
قاعدة البيانات: MEDLINE
الوصف
تدمد:1364-6753
DOI:10.1007/s10048-016-0481-5