Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998.
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Animals↗
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Evidence that a locus for familial high myopia maps to chromosome 18p.
Myopia, or nearsightedness, is the most common human eye disorder. A genomewide screen was conducted to map the gene(s) associated with high, early-onset, autosomal dominant myopia. Eight families that each included two or more individuals with >=-6.00 diopters (D) myopia, in two or more successive generations, were identified. Myopic individuals had no clinical evidence of connective-tissue abnormalities, and the average age at diagnosis of myopia was 6.8 years. The average spherical component refractive error for the affected individuals was -9.48 D. The families contained 82 individuals; of these, DNA was available for 71 (37 affected). Markers flanking or intragenic to the genes for Stickler syndrome types 1 and 2 (chromosomes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glaucoma (chromosome 1q21-q31) were also analyzed. No evidence of linkage was found for markers for the Stickler syndrome types 1 and 2, the Marfan syndrome, or the juvenile glaucoma loci. After a genomewide search, evidence of significant linkage was found on chromosome 18p. The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31.
Chromosome Mapping↗
Natural resistance to Mycoplasma pulmonis infection in mice: host resistance gene(s) map to chromosome 4.
Strains of mice differ greatly in resistance to infection in their lungs with virulent Mycoplasma pulmonis (MP) organisms even during the first 5 days, prior to detection of humoral or T cell mediated acquired immune responses. C57BL/6 mice are resistant, and BALB/c and C3H mice are susceptible, and one major gene, MP, not linked to the H2 major histocompatibility complex, regulates resistance. C57BL/6 x C3H (B x H) and BALB/c x C57BL/6 (C x B) recombinant inbred strain mice were infected intratracheally with the T2 strain of MP. Five days later, the recovery of organisms from tracheolung lavages and lung tissue was determined. The strain distribution pattern of resistance indicated that the MP gene maps to chromosome 4. B6.C-H18 (B6 mice congenic for the BALB/c H18 gene of chromosome 4) were much more susceptible than B6 mice, but were less susceptible than BALB/c mice, supporting the data obtained with the recombinant inbred strain mice, but suggesting that other genes may also influence resistance to infection with MP.
Animals↗
Report and abstracts of the Sixth International Workshop on Human Chromosome 21 Mapping 1996. Cold Spring Harbor, New York, USA. May 6-8,1996.
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Animals↗
Single-copy flanking sequences in human histone gene clusters map to chromosomes 1 and 6.
Two single-copy sequences flanking two different human histone gene clusters were used as probes to map these clusters by in situ hybridization. pFF435B, a unique sequence subclone derived from a lambda genomic clone (lambda HHG55) containing H2A, H2B, H3, and H4 genes, mapped to chromosome 1q21 (chi 2 = 120.99, P less than 0.001). pST519E, a single-copy sequence derived from a lambda genomic clone (lambda HHG17) containing only H3 and H4 genes, mapped to chromosome 6p21 (chi 2 = 112.62, P less than 0.001). These findings agree with previous assignments of human histone genes to chromosomes 1 and 6 and demonstrate that the single-copy flanking sequences in different human histone gene clusters are unique for different chromosomes.
Chromosomes, Human, Pair 1↗
The human gene for nuclear protein BM28 (CDCL1), a new member of the early S-phase family of proteins, maps to chromosome band 3q21.
BM28, a newly recognized human nuclear protein, possibly plays an important role in two crucial steps of the cell cycle e.g. the onset of DNA replication and cell division. It shows significant similarity to members of a recently defined family of early S-phase proteins. Using total plasmid DNA containing the complete coding sequence of the BM28 gene (CDCL1, for cdc-like 1) as a probe for fluorescence in situ hybridization, we have mapped the gene to chromosome band 3q21. This region is involved in specific structural chromosome aberrations found in acute myeloid leukemia (AML). Based on the function of BM28 and the chromosomal location of its gene, CDCL1 might prove to be a candidate for an oncogene affected by the chromosomal breaks and playing a pathogenetic role in AML.
Cell Cycle Proteins↗
Identification and mapping to chromosome 1 of a susceptibility locus for periinsulitis in non-obese diabetic mice.
Insulin-dependent diabetes mellitus (IDDM) is a polygenic disease caused by autoimmune destruction of insulin-producing beta cells in the islets of Langerhans. Its onset is preceded by a long and variable period in which lymphoid cells infiltrate the pancreas but first remain outside the islets (peri-insulitis) before invading them (insulitis). Among susceptibility loci, only the major histocompatibility complex (MHC) has been clearly assigned. Genetic study of the nonobese diabetic (NOD) mouse model for insulin-dependent diabetes mellitus has revealed genetic linkage of insulitis and of early onset diabetes with two non-MHC loci mapping to chromosome 3 and 11 respectively. Here we report a close association of periinsulitis with a third non-MHC locus mapping to chromosome 1. Successive stages in the progression of diabetic disease thus appear to be controlled by distinct genes or sets of genes.
Alleles↗
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly.
Chromosome Mapping↗
The gene for cherubism maps to chromosome 4p16.
Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM.
Adolescent↗
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.
The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage analysis in a non-SCA1/non-SCA2 family and have confirmed its existence in a second such family. We suggest designating this new locus "SCA3". Combined analysis of the two families restricted the SCA3 locus to a 15-cM interval between markers D14S67 and D14S81. The gene for Machado-Joseph disease (MJD), a clinically different form of ADCA type I, has been recently assigned to chromosome 14q24.3-q32. Although the SCA3 locus is within the MJD region, linkage analyses cannot yet demonstrate whether they result from mutations of the same gene. Linkage to all three loci (SCA1, SCA2, and SCA3) was excluded in another family, which indicates the existence of a fourth ADCA type I locus.
Adult↗
DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.
Autosomal recessive non-syndromal deafness is an extremely heterogeneous condition with at least 19 loci (DFNB1-19) already described. We have used autozygosity mapping to localise a further novel locus, DFNB20, to chromosome 11q25-qter in a consanguineous family originating from Pakistan. A region of homozygosity was observed in affected individuals spanning the interval D11S969-qter.
Chromosome Mapping↗
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.
Congenital chloride diarrhea affects intestinal transportation of electrolytes, resulting in potentially fatal diarrhea. Linkage disequilibrium analyses have suggested the congenital chloride diarrhea gene (CLD) to lie within 0.37 cM from D7S496 in human chromosome 7q31. To clone the CLD gene, we have constructed and refined a physical map based on a 2.7-Mb YAC contig around D7S496 and identified two candidate genes. The physical positions of 4 known genes (DRA, PRKAR2B, LAMB1, DLD), 7 polymorphic repeat markers, and 13 CpG islands were established. DRA (down-regulated in adenoma) is expressed in the gut and encodes a protein with sequence homology to anion transporters, whereas PRKAR2B encodes a regulatory subunit for protein kinase A. Both genes map within 450 kb from D7S496, making them functionally and positionally relevant candidates for CLD.
Base Sequence↗
The novel gene locus for agenesis of permanent teeth (He-Zhao deficiency) maps to chromosome 10q11.2.
He-Zhao deficiency has been recently characterized with a distinct form of agenesis of permanent teeth that is different from other previously reported disorders of tooth agenesis. This inherited abnormality suggests that some gene(s) associated with the development of permanent teeth may mutate. In this study, we map the gene locus to chromosome 10q11.2. The DNA pooling method combined with two-point and multi-point linkage analysis has been successfully applied. The maximum LOD (Zmax) scores for two-point and multi-point analyses are 13.29 (on marker D10S196) at recombination fraction (theta) = 0 and 18.09 (between markers D10S1772 and D10S1766), respectively. Haplotype analysis confined the locus within an interval of 5.5 cM flanked by markers D10S604 and D10S568. This study has demonstrated a novel gene locus responsible for He-Zhao deficiency and provides a good likelihood for the discovery of one of the genes determining permanent tooth formation and development.
Alleles↗
Physical mapping of chromosome 6: a strategy for the rapid generation of sequence-ready contigs.
The development of radiation hybrid (RH) mapping (Cox et al., 1990) and the availability of large numbers of STS markers, together with extensive bacterial clone resources provided a means to accelerate the process of mapping a human chromosome and preparing bacterial clone contigs ready to sequence. Our aim is to construct physical clone maps covering those regions of chromosome 6 that are not currently extensively mapped, and use these to determine the DNA sequence of the whole chromosome. We report here a strategy which initially involves establishing a high density framework map using RH mapping. The framework markers are then used for the identification of bacterial genomic clones covering the chromosome. The bacterial clones are analysed by restriction enzyme fingerprinting and STS-content analysis to identify sequence-ready contigs. Contig gap closure will also be performed by clone walking.
Chromosome Mapping↗
Comparative mapping of mouse chromosome 2 and human chromosome 9q: the genes for gelsolin and dopamine beta-hydroxylase map to mouse chromosome 2.
The mapping of human chromosome 9 (HSA9) and mouse chromosome 2 (MMU2) has revealed a conserved syntenic region between the distal end of the long arm of chromosome 9 and proximal mouse chromosome 2. Two genes that map to human chromosome 9q34, gelsolin (GSN) and dopamine beta-hydroxylase (DBH), have not previously been located in the mouse. We have used an interspecific backcross to map each of these genes, by Southern blot analysis, to mouse chromosome 2. Gelsolin (Gsn) is tightly linked to the gene for complement component C5 (Hc), and dopamine beta-hydroxylase (Dbh) is just proximal to the Abelson leukemia virus oncogene (Abl) and alpha-spectrin 2 (Spna-2). The loci for gelsolin and dopamine beta-hydroxylase therefore form part of the conserved synteny between HSA9q and MMU2.
Animals↗
Human regeneration protein/lithostathine genes map to chromosome 2p12.
The pancreatic stone protein (lithostathine) secreted by the exocrine pancreas is an inhibitor of CaCO3 crystal growth. This protein, which is also present in endocrine pancreas, has also been called the regeneration protein (reg). Here we report the mapping of the REG gene to chromosome 2 using the polymerase chain reaction for the specific amplification of human reg sequences in rodent/human somatic cell hybrid DNA. A regional assignment has been made by in situ hybridization to metaphase chromosomes using two different fluorescently labelled genomic probes corresponding to the REG gene and a related gene REGL. Both probes hybridized to chromosome 2p12 suggesting the tandem organization of these genes.
Animals↗
The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1.
PURPOSE: We have discovered a spontaneous and severe mutation that leads to partial or complete disruption of the lens and cataract in the RIIIS/J inbred strain of mice. The purpose of this study was to determine the mode of inheritance, specificity, and range of phenotypes using histological, ophthalmic, quantitative electron microscopic, and microarray-based methods. We also have fine-mapped the mutation, ldis1 (lens disrupter 1), and have evaluated positional candidate genes. METHODS: Eyes from mutant RIIIS/J animals and from an F2 intercross between RIIIS/J and DBA/2J were examined and scored to map the ldis1 mutation. Axons in the optic nerve were counted. Messenger RNA from mutant eyes was hybridized to Affymetrix short oligomer microarrays and compared to five control strains. Expression differences were used to evaluate molecular sequellae of the mutation. RESULTS: Mice that are homozygous for ldis1 have small eyes. Lenses are without exception opaque, deformed, dislocated, fragmented, and small. In contrast, retinal architecture and ganglion cell numbers are within normal range. We have not detected any other ldis1-associated ocular or systemic abnormalities. ldis1 is recessive and maps to chromosome 8 at about 106.5 Mb between D8Mit242 and D8Mit199 with a peak LOD score near cadherin 1. The homologous human chromosomal interval is 16q22.1. The expression of several downstream crystallin transcripts are severely affected in the mutant, as are the expression levels of multiple members of the transforming growth factor superfamily and the glutathione S-transferases. CONCLUSIONS: We have discovered and mapped a recessive mutation to mouse chromosome 8 between 105 and 109 Mb. Homozygous mutant mice have a selective and severe effect on lens integrity. On the basis of the phenotype and the locus position, several candidate genes have been identified.
Animals↗
Molecular cloning of the novel human G protein-coupled receptor (GPCR) gene mapped on chromosome 9.
A novel human GPCR gene was cloned by PCR with degenerate primers designed from cannabinoid type 1 receptor (CB1) sequences and a full-length clone was isolated by screening of a human genomic DNA library. This gene, termed EDG-3, is highly homologous (51.9 % overall and 69.2 % in seven transmembrane regions) to human EDG-1, 47.9 % to rat AGR16 but only 28.0 % to human CB1 receptor. The Northern hybridization analysis showed that a 2.8 kb transcript of EDG-3 is abundantly expressed in the heart followed by placenta, kidney and liver. The EDG-3 gene was mapped on the human chromosome 9q22.1-q22.2 by fluorescence in situ hybridization analysis. Although the ligand and physiological role of this receptor is unknown, this gene may be a new member of the EDG family.
Amino Acid Sequence↗