A conserved family of elav-like genes in vertebrates.

A large family of genes encodes proteins with RNA recognition motifs that are presumed to bind RNA and to function in posttranscriptional regulation. Neural-specific members of this family include elav, a gene required for correct differentiation and maintenance of neurons in Drosophila melanogaster, and a related gene, HuD, which is expressed in human neuronal cells. I have identified genes related to elav and HuD in Xenopus laevis, zebrafish, and mouse that define a family of four closely related vertebrate elav-like genes (elrA, elrB, elrC, and elrD) in fish, frogs, and mammals. In addition to protein sequence conservation, a segment of the 3'-untranslated sequence of elrD is also conserved, implying a functional role in elrD expression. In adult frogs, elrC and elrD are exclusively expressed in the brain, whereas elrB is expressed in brain, testis, and ovary. During Xenopus development, elrC and elrD RNAs are detected by late gastrula and late neurula stages, respectively, whereas a nervous system-specific elrB RNA species is expressed by early tadpole stage. Additional elrB transcripts are detected in the ovary and early embryo, demonstrating a maternal supply of mRNA and possibly of protein. These expression patterns suggest a role for different elav-like genes in early development and neuronal differentiation. Surprisingly, elrA is expressed in all adult tissues tested and at all times during development. Thus, the widely expressed elrA is expected to have a related function in all cells.

A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase.

E6-AP is a 100-kDa cellular protein that interacts with the E6 protein of the cancer-associated human papillomavirus types 16 and 18. The E6/E6-AP complex binds to and targets the p53 tumor-suppressor protein for ubiquitin-mediated proteolysis. E6-AP is an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. The amino acid sequence of E6-AP shows similarity to a number of protein sequences over an approximately 350-aa region corresponding to the carboxyl termini of both E6-AP and the E6-AP-related proteins. Of particular note is a conserved cysteine residue within the last 32-34 aa, which in E6-AP is likely to be the site of ubiquitin thioester formation. Two of the E6-AP-related proteins, a rat 100-kDa protein and a yeast 95-kDa protein (RSP5), both of previously unknown function, are shown here to form thioesters with ubiquitin. Mutation of the conserved cysteine residue of these proteins destroys their ability to accept ubiquitin. These data strongly suggest that the rat 100-kDa protein and RSP5, as well as the other E6-AP-related proteins, belong to a class of functionally related E3 ubiquitin-protein ligases, defined by a domain homologous to the E6-AP carboxyl terminus (hect domain).

Cymaprimadontidae: a new family of insectivores / John Clark --

v.16:no.8(1968)

Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1

Background Lethal chondrodysplasia (bulldog syndrome) is a well-known congenital syndrome in cattle and occurs sporadically in many breeds. In 2015, it was noticed that about 12 % of the offspring of the phenotypically normal Danish Holstein sire VH Cadiz Captivo showed chondrodysplasia resembling previously reported bulldog calves. Pedigree analysis of affected calves did not display obvious inbreeding to a common ancestor, suggesting the causative allele was not a rare recessive. The normal phenotype of the sire suggested a dominant inheritance with incomplete penetrance or a mosaic mutation. Results Three malformed calves were examined by necropsy, histopathology, radiology, and computed tomography scanning. These calves were morphologically similar and displayed severe disproportionate dwarfism and reduced body weight. The syndrome was characterized by shortening and compression of the body due to reduced length of the spine and the long bones of the limbs. The vicerocranium had severe dysplasia and palatoschisis. The bones had small irregular diaphyses and enlarged epiphyses consisting only of chondroid tissue. The sire and a total of four affected half-sib offspring and their dams were genotyped with the BovineHD SNP array to map the defect in the genome. Significant genetic linkage was obtained for several regions of the bovine genome including chromosome 5 where whole genome sequencing of an affected calf revealed a COL2A1 point mutation (g.32473300 G > A). This private sequence variant was predicted to affect splicing as it altered the conserved splice donor sequence GT at the 5’-end of COL2A1 intron 36, which was changed to AT. All five available cases carried the mutant allele in heterozygous state and all five dams were homozygous wild type. The sire VH Cadiz Captivo was shown to be a gonadal and somatic mosaic as assessed by the presence of the mutant allele at levels of about 5 % in peripheral blood and 15 % in semen. Conclusions The phenotypic and genetic findings are comparable to a previously reported COL2A1 missense mutation underlying lethal chondrodysplasia in the offspring of a mosaic French Holstein sire (Igale Masc). The identified independent spontaneous splice site variant in COL2A1 most likely caused chondrodysplasia and must have occurred during the early foetal development of the sire. This study provides a first example of a dominant COL2A1 splice site variant as candidate causal mutation of a severe lethal chondrodysplasia phenotype. Germline mosaicism is a relatively frequent mechanism in the origin of genetic disorders and explains the prevalence of a certain fraction of affected offspring. Paternal dominant de novo mutations are a risk in cattle breeding, especially because the ratio of defective offspring may be very high and be associated with significant animal welfare problems.

Family of James Burrill Angell

Standing (Adults) L-R: Marion Waterhouse Angell (Mrs. J.R.); James Rowland Angell; Andrew C. McLaughlin; Fanny C. Cooley. Angell (Mrs. A.C.); Alexis Caswell Angell; Sarah Caswell Angell (daughter of A.C), Lois Angell McLaughlin

Middle Row: James Waterhouse Angell (son of J.R.), Marion Angell (McAlpin) (daughter of James R.) James Burrill Angell, Isabel McLaughlin

Front Row: Constance McLaughlin (Green); Robert Cooley Angell (son of A.C.); Esther Lois McLaughlin (Donahue) David Blair McLaughlin; Rowland Hazard McLaughlin; James Burrill Angell II (son of A.C.): James Angell McLaughlin

The three Jameses : a family of minds : Henry James Sr., William James, Henry James /

Includes index.

Hale Hall : with notes on the family of Ireland Blackburne.

Mode of access: Internet.

A novel family of digital circuits.

Includes bibliographical references.

Cowper memorials / Records of the Rev. John Cowper, M.A., and of other members of the family of Wm. Cowper, the poet.

Mode of access: Internet.

A genealogical memorial of the family of Buckley of Derby and Saddleworth in the counties of Derby and York, with appendices, abstract of wills, chancery proceedings, inquis, post mort. &c.

Mode of access: Internet.

Feeding four on a dollar a day; a Denver family experiment in feeding adequate food to a family of four on a dollar a day for a month, with tested menus and prized recipes,

First issued under title: A Denver family experiment in feeding adequate food to a family of four on a dollar a day.

Historical records of the family of Leslie from 1067 to 1868-9,

Mode of access: Internet.

A genealogical record of the descendants of the Swartley family of Bucks and Montgomery Counties, Pa. : together with brief historical and biographical sketches ... /

With: Genealogical record of the descendants of Henry Rosenberger ... / A.J. Fretz. 1906.

Our Campbell ancestors, 1742-1937. Traditions and history of the family of five Campbell brothers and sisters; John, James Douglas, Hester, Mary and Samuel: including what is known of them in New Jersey; York county, Pennsylvania; Union county, South Carolina and in Ohio. A genealogy of the known descendants of John Campbell through his son James, and Samuel Campbell through his son Ralph, also brief ancestral notes on families connected by marriage with the foregoing; viz; Parnell, Clark, Spray, Wilson, Haskett, Mendenhall and Underhill,

Bibliographical foot-notes.