Human Genetics (HUM GENET)

Publications in this journal

• Article: Genetic Variants Associated with Breast Cancer Risk for Ashkenazi Jewish Women with Strong Family Histories but No Identifiable BRCA1/2 Mutation

  Rinella ES, Yackowski L, Pramanik S, Oratz R, Schnabel F, Shao Y, Guha S, LeDuc C, Campbell C, Terry MB, Senie RT, Andrulis I, Daly M, John EM, Roses D, Chung WK, Ostrer H
  Human Genetics 01/2013; In press.
• Article: Olby, Robert (2009): Francis Crick. Hunter of Life’s Secrets

  Peter S. Harper
  Human Genetics 05/2012; 127(4):461-462.
• Article: Srikumar P. Chellappan: Chromatin protocols

  Ray Waters
  Human Genetics 05/2012; 126(5):727-727.
• Article: Mathew B. Hamilton: Population genetics

  Michael Krawczak
  Human Genetics 05/2012; 126(6):851-852.
• Article: Michal Janitz (ed.) (2008): Next-Generation Genome Sequencing

  James Colley
  Human Genetics 05/2012; 127(4):459-460.
• Article: H Kehrer-sawatzki and DN Cooper (eds): Copy number variation and disease

  F. Lucy Raymond
  Human Genetics 05/2012; 127(1):107-108.
• Source

  Available from: bmj.com

  Article: The correspondence of Charles Darwin 1868

  Peter S. Harper
  Human Genetics 05/2012; 125(4):465-466.
• Article: Jones S, Keynes M (eds): Twelve Galton lectures. A centenary selection with commentaries

  Peter S. Harper
  Human Genetics 05/2012; 127(3):371-372.
• Article: R. C. Elston and W. D. Johnson: Basic biostatistics for geneticists and epidemiologists

  Peter Holmans, Lesley Jones
  Human Genetics 05/2012; 127(2):247-248.
• Article: The woman who walked into the sea: Huntington’s and the making of a genetic disease

  Peter S. Harper
  Human Genetics 05/2012; 125(1):111-112.
• Article: Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing

  Kathleen Askland, Cynthia Read, Chloe O’Connell, Jason H. Moore
  [show abstract] [hide abstract]
  ABSTRACT: Schizophrenia is a complex genetic disorder. Gene set-based analytic (GSA) methods have been widely applied for exploratory analyses of large, high-throughput datasets, but less commonly employed for biological hypothesis testing. Our primary hypothesis is that variation in ion channel genes contribute to the genetic susceptibility to schizophrenia. We applied Exploratory Visual Analysis (EVA), one GSA application, to analyze European-American (EA) and African-American (AA) schizophrenia genome-wide association study datasets for statistical enrichment of ion channel gene sets, comparing GSA results derived under three SNP-to-gene mapping strategies: (1) GENIC; (2) 500-Kb; (3) 2.5-Mb and three complimentary SNP-to-gene statistical reduction methods: (1) minimum p value (pMIN); (2) a novel method, proportion of SNPs per Gene with p values below a pre-defined α-threshold (PROP); and (3) the truncated product method (TPM). In the EA analyses, ion channel gene set(s) were enriched under all mapping and statistical approaches. In the AA analysis, ion channel gene set(s) were significantly enriched under pMIN for all mapping strategies and under PROP for broader mapping strategies. Less extensive enrichment in the AA sample may reflect true ethnic differences in susceptibility, sampling or case ascertainment differences, or higher dimensionality relative to sample size of the AA data. More consistent findings under broader mapping strategies may reflect enhanced power due to increased SNP inclusion, enhanced capture of effects over extended haplotypes or significant contributions from regulatory regions. While extensive pMIN findings may reflect gene size bias, the extent and significance of PROP and TPM findings suggest that common variation at ion channel genes may capture some of the heritability of schizophrenia.
  Human Genetics 04/2012; 131(3):373-391.
• Article: Novel Alu retrotransposon insertion leading to Alström syndrome

  Mustafa Taşkesen, Gayle B. Collin, Alexei V. Evsikov, Ayşegül Güzel, R. Köksal Özgül, Jan D. Marshall, Jürgen K. Naggert
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  ABSTRACT: Alström syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal failure. Alström syndrome is caused by recessively inherited mutations in the ALMS1 gene, which codes for a putative ciliary protein. Alström syndrome is characterized by extensive allelic heterogeneity, however, founder effects have been observed in some populations. To date, more than 100 causative ALMS1 mutations have been identified, mostly frameshift and non-sense alterations resulting in termination signals in ALMS1. Here, we report a complex Turkish kindred in which sequence analysis uncovered an insertion of a novel 333 basepair Alu Ya5 SINE retrotransposon in the ALMS1 coding sequence, a previously unrecognized mechanism underlying the mutations causing Alström syndrome. It is extraordinarily rare to encounter the insertion of an Alu retrotransposon in the coding sequence of a gene. The high frequency of the mutant ALMS1 allele in this isolated population suggests that this recent retrotransposition event spreads quickly, and may be used as a model to study the population dynamics of deleterious alleles in isolated communities.
  Human Genetics 04/2012; 131(3):407-413.
• Article: Philippe Collas (ed): Chromatin immunoprecipitation assays: methods and protocols

  Ray Waters
  Human Genetics 04/2012; 127(6):735-735.
• Article: Ricardo Benavente and Jean-Nicolas Volff: Meiosis

  Maj Hulten
  Human Genetics 04/2012; 126(3):475-478.
• Article: Shaffer LG, Slovak ML, Campbell LJ (2009): ISCN 2009 an international system for human cytogenetic nomenclature

  Lionel Willatt, Sian M. Morgan
  Human Genetics 04/2012; 126(4):603-604.
• Article: Novel human pathological mutations

  Dolores Martínez-Rubio, José M. Millán, Francesc Palau, Carmen Espinós
  Human Genetics 04/2012; 125(3):353-353.
• Article: Novel human pathological mutations

  Al Balwi Mohammed, Eyaid Wafaa, Al Abdulkareem Ibrahim
  Human Genetics 04/2012; 126(2):353-353.
• Article: Gerard de Vries and Klasien Horstman (eds): Genetics from laboratory to society. Societal learning as an alternative to regulation

  Angus J. Clarke
  Human Genetics 04/2012; 126(3):473-474.
• Article: The impact of Converso Jews on the genomes of modern Latin Americans

  C. Velez, P. F. Palamara, J. Guevara-Aguirre, L. Hao, T. Karafet, M. Guevara-Aguirre, A. Pearlman, C. Oddoux, M. Hammer, E. Burns, I. Pe’er, G. Atzmon, H. Ostrer
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  ABSTRACT: Modern day Latin America resulted from the encounter of Europeans with the indigenous peoples of the Americas in 1492, followed by waves of migration from Europe and Africa. As a result, the genomic structure of present day Latin Americans was determined both by the genetic structure of the founding populations and the numbers of migrants from these different populations. Here, we analyzed DNA collected from two well-established communities in Colorado (33 unrelated individuals) and Ecuador (20 unrelated individuals) with a measurable prevalence of the BRCA1 c.185delAG and the GHR c.E180 mutations, respectively, using Affymetrix Genome-wide Human SNP 6.0 arrays to identify their ancestry. These mutations are thought to have been brought to these communities by Sephardic Jewish progenitors. Principal component analysis and clustering methods were employed to determine the genome-wide patterns of continental ancestry within both populations using single nucleotide polymorphisms, complemented by determination of Y-chromosomal and mitochondrial DNA haplotypes. When examining the presumed European component of these two communities, we demonstrate enrichment for Sephardic Jewish ancestry not only for these mutations, but also for other segments as well. Although comparison of both groups to a reference Hispanic/Latino population of Mexicans demonstrated proximity and similarity to other modern day communities derived from a European and Native American two-way admixture, identity-by-descent and Y-chromosome mapping demonstrated signatures of Sephardim in both communities. These findings are consistent with historical accounts of Jewish migration from the realms that comprise modern Spain and Portugal during the Age of Discovery. More importantly, they provide a rationale for the occurrence of mutations typically associated with the Jewish Diaspora in Latin American communities.
  Human Genetics 04/2012; 131(2):251-263.