Human Genetics Community Research Articles

High‐throughput single nucleotide polymorphism genotyping in wheat (Triticum spp.)

Over the past few years, considerable progress has been made in high-throughput single nucleotide polymorphism (SNP) genotyping technologies, largely through the investment of the human genetics community. These technologies are well adapted to diploid species. For plant breeding purposes, it is important to determine whether these genotyping methods are adapted to polyploidy, as most major crops are former or recent polyploids. To address this problem, we tested the capacity of the multiplex technology SNPlex with a set of 47 wheat SNPs to genotype DNAs of 1314 lines that were organized in four 384-well plates. These lines represented different taxa of tetra- and hexaploid Triticum species and their wild diploid relatives. We observed 40 markers which gave less than 20% missing data. Different methods, based on either Sanger sequencing or the MassARRAY genotyping technology, were then used to validate the genotypes obtained by SNPlex for 11 markers. The concordance of the genotypes obtained by SNPlex with the results obtained by the different validation methods was 96%, except for one discarded marker. Furthermore, a mapping study on six markers showed the expected genetic positions previously described. To conclude, this study showed that high-throughput genotyping technologies developed for diploid species can be used successfully in polyploids, although there is a need for manual reading. For the first time in wheat species, a core of 39 SNPs is available that can serve as the basis for the development of a complete SNPlex set of 48 markers.

Discovery of the Role of Non-B DNA Structures in Mutagenesis and Human Genomic Disorders

Discovery of the Role of Non-B DNA Structures in Mutagenesis and Human Genomic Disorders

Maimon M. Cohen, PhD

Maimon M. Cohen, PhD

Introductory Speech for Francis S. Collins

Introductory Speech for Francis S. Collins

MOLECULAR APPROACHES TO THE STUDY OF PARENTAGE, RELATEDNESS, AND FITNESS: PRACTICAL APPLICATIONS FOR WILD ANIMALS

Abstract Historically, novel molecular techniques have been developed by the human genetics community, adapted for nonhuman organisms by evolutionary biologists, and gradually adopted by the wildlife and fisheries communities. Today, evolutionary biologists routinely rely on molecules to assess mate choice, dispersal, parentage, sex ratios, and other population parameters. All in all, the use of molecular genetic markers has revolutionized population biology—human and otherwise. Prescient wildlife and fisheries biologists have recognized the importance of this revolution and are now using molecular genetic tools to evaluate captive or supplemental breeding programs, population dynamics, stocking strategies, and taxonomic issues. Herein, I explore the use of molecular genetic markers to address questions in wildlife biology and management. Specifically, I review how—among other topics—cannibalism, sex-ratios, dispersal, enumeration, genotoxicology, hybridization, and genetically modified organisms can be e...

The DNA sequence of human chromosome 7.

Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.

Human Genetics Environment and Communities of Color

Human Genetics Environment and Communities of Color

Human population genetics: lessons from Finland.

A population of about 5 million at the northern corner of Europe is unlikely to arouse the attention of the human genetics community, unless it offers something useful for others to learn. A combination of coincidences has finally made this population one that, out of proportion for its size, has by example shaped research in human disease genetics. This chapter summarizes advances made in medical genetics that are based on research facilitated by Finland's population structure. The annotation of the human genome for its polymorphism and involvement in disease is not over; it is, therefore, of interest to assess whether genetic studies in populations such as the Finnish might help in the remaining tasks.

Implementation of a large-scale ENU mutagenesis program: towards increasing the mouse mutant resource

Systematic approaches to mouse mutagenesis will be vital for future studies of gene function. We have begun a major ENU mutagenesis program incorporating a large genome-wide screen for dominant mutations. Progeny of ENU-mutagenized mice are screened for visible defects at birth and weaning, and at 5 weeks of age by using a systematic and semi-quantitative screening protocol-SHIRPA. Following this, mice are screened for abnormal locomotor activity and for deficits in prepulse inhibition of the acoustic startle response. Moreover, in the primary screen, blood is collected from mice and subjected to a comprehensive clinical biochemical analysis. Subsequently, secondary and tertiary screens of increasing complexity can be used on animals demonstrating deficits in the primary screen. Frozen sperm is archived from all the male mice passing through the screen. In addition, tail tips are stored for DNA. Overall, the program will provide an extensive new resource of mutant and phenotype data to the mouse and human genetics communities at large. The challenge now is to employ the expanding mouse mutant resource to improve the mutant map of the mouse. An improved mutant map of the mouse will be an important asset in exploiting the growing gene map of the mouse and assisting with the identification of genes underlying novel mutations-with consequent benefits for the analysis of gene function and the identification of novel pathways.

Letter to human genetics journals.

Letter to human genetics journals.

Clone and genomic repositories at the American Type Culture Collection

The American Type Culture Collection (ATCC) has a long history of characterizing, preserving, and distributing biological resource materials for the scientific community. Starting in 1925 as a repository for standard bacterial and fungal strains, its collections have diversified with technologic advances and in response to the requirements of its users. To serve the needs of the human genetics community, the National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), established an international Repository of Human DNA Probes and Libraries at the ATCC in 1985. This repository expanded the existing collections of recombinant clones and libraries at the ATCC, with the specific purposes of (1) obtaining, amplifying, and distribution probes detecting restriction fragment length polymorphisms (RFLPs); (2) obtaining, amplifying, and distributing genomic and cDNA clones from known genes independent of RFLP detection; (3) distributing the chromosome-specific libraries generated by the National Laboratory Gene Library Project at the Lawrence Livermore and Los Alamos National Laboratories and (4) maintaining a public, online database describing the repository materials. Because it was recognized that animal models and comparative mapping can be crucial to genomic characterization, the scope of the repository was broadened in February 1989 to include probes from themore » mouse genome.« less