Isolation of cDNAs from the human X chromosome and derivation of related STSs. Final progress report, April 1992--March 1995 Page: 2 of 6
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Over the course of this funding period, the number of genes assigned to the human X chromosome
has approximately tripled from less than one hundred to nearly three hundred characterized, cloned
genes assigned to it. The aims of this project were to develop methods for gene identification and
to identify and characterize expressed sequences from the X chromosome.
The rapidly changing environment of the human genome project provided abundant resources for
gene characterization, and since methods for gene identification became rather robust over this
period, these aims were de-emphasized during the project. Among the methods developed was a
local one (reciprocal probing) that was developed by Drs. Cheng Chi Lee and C. Thomas Caskey,
with emphasis on the human X chromosome (Lee et al., Hum Mol Genet 4:1373, 1995). The
development of this method offered significant expressed sequence resources for this project,
particularly when coupled with the efforts to identify cosmid clones from specific X chromosome
locations, as the reciprocal probing process results in paired genomic (cosmid) and cDNA
materials. Attention, then has been paid to characterization of genes rather than to their
A major aim of this application involved the further characterization of ESTs generated by the
Venter group and assigned to the X chromosome. Toward this aim, a number of cDNAs have
been studied. A manuscript describing sublocalization of these clones has been published (Parrish
and Nelson, Hum Mol Genet 2:1901, 1993). In this paper, 19 additional X-linked genes were
assigned to regions as well as to YAC and cosmid contigs in many cases.
The Lee et al. paper cited above placed several dozen novel ESTs onto the chromosome.
A paper in press in Human Molecular Genetics (Ferrero et al., Hum Mol Genet 4, in press, 1995)
describes additional fine mapping of ESTs in a 35 Mbp region of distal Xp in the course of
constructing a complete YAC contig of this region.
EST mapping has become a major endeavor in a number of groups, although the emphasis has
turned to mapping random ESTs with genome-wide resources such as radiation hybrids.
Numerous specific genes from the distal long arm of the X chromosome have been characterized.
These are discussed below in pter-qter order:
Significant effort has been expended in characterization of this gene involved in fragile X
syndrome. Most of this effort has been funded by either an NIH RO 1 for characterizing the gene
and disease, or by a separate DOE grant (ER61830) that supports mapping and sequencing of the
X chromosome. Sequence of 152 kb surrounding this gene has been deposited in the public
databases. This sequence was developed in collaboration with Dr. Richard Gibbs at BCM. An
interesting feature of this sequence is the apparent absence of neighboring genes.
This chromosomal fragile site is associated with mental retardation that is less severe than that
found in classical fragile X syndrome. Despite over two years of knowledge of the fragile site,
expansion and disease, no gene has been identified. We have devoted significant effort to
characterizing this region at the genomic level (cosmid contigs, extensive genomic sequence) in
order to identify a gene which may be affected by this mutation. Exon amplification, cDNA
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Nelson, D.L. Isolation of cDNAs from the human X chromosome and derivation of related STSs. Final progress report, April 1992--March 1995, report, September 1, 1995; United States. (https://digital.library.unt.edu/ark:/67531/metadc624117/m1/2/: accessed April 26, 2019), University of North Texas Libraries, Digital Library, https://digital.library.unt.edu; crediting UNT Libraries Government Documents Department.