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A second generation human haplotype map of over 3.1 million SNPs
TLDR
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis
TLDR
Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
TLDR
A novel gene, EPM2A, is identified at chromosome 6q24 that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP) that is predicted to cause deleterious effects in the putative protein product, named laforin, resulting in Lafora's disease.
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
TLDR
The identification of human Sonic Hedgehog (SHH) as HPE3 — the first known gene to cause HPE is reported, and five families that segregate different heterozygous SHH mutations are found that predict premature termination of the SHH protein.
Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
TLDR
A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development.
TLDR
It is shown here that Gli2 mutant mice exhibit severe skeletal abnormalities including cleft palate, tooth defects, absence of vertebral body and intervertebral discs, and shortened limbs and sternum.
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.
TLDR
These unusual DNA characteristics are possibly intrinsic properties of common fragile sites that may affect their replication and condensation as well as organization, and may lead to fragility.
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